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# Variantyx

## Sitemaps

- [XML Sitemap](https://www.variantyx.com/sitemap.xml): Contains all public & indexable URLs for this website.

## Posts

- [News Center](https://www.variantyx.com/company/newscenter/) - Read our latest company news including recently published peer-reviewed articles, press releases and more.
- [Detecting short tandem repeats using WGS](https://www.variantyx.com/company/blog/detecting-short-tandem-repeats-using-wgs/) - In this week’s post we’re taking a closer look at short tandem repeats (STRs) and how they’re detected using whole genome sequencing (WGS). As their name suggests, STR’s are short sequences of DNA, typically 1 to 6 nucleotides in length, that repeat consecutively. The number of repeats varies from person to person, with the length
- [Comprehensive hereditary cancer screening: Know the sequencing technology being used](https://www.variantyx.com/company/blog/comprehensive-hereditary-cancer-screening-know-the-sequencing-technology-being-used/) - Everyone has some risk of developing cancer. Most often cancer is caused by mutations that arise as a consequence of DNA damage due to factors such as smoking or exposure to UV light, or as the result of aging. However, in approximately 5-10% of cases, cancer is the result of hereditary mutations. These mutations, inherited
- [Spotlight on Duchenne and Becker muscular dystrophies](https://www.variantyx.com/company/blog/spotlight-on-duchenne-and-becker-muscular-dystrophies/) - Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are related disorders that are characterized by progressive degeneration and weakening of the muscles, particularly skeletal and heart muscles. DMD is the most common of all muscular dystrophies. When considered together, DMD and BMD affect between 1 in 3,500 and 1 in 5,000 males world wide.
- [Spotlight on Epilepsy](https://www.variantyx.com/company/blog/spotlight-on-epilepsy/) - Epilepsy is a neurological disorder in which abnormal brain activity results in seizures. Signs and symptoms of seizures are not always easily recognizable, particularly in young children. They can include: Uncontrolled twitching of arms and legsPeriods of staring into space, loss of attention or lack of responsePeriods of momentary confusionLoss of consciousness or awarenessSudden feelings
- [Expanded coverage of repeat expansion loci](https://www.variantyx.com/company/blog/expanded-coverage-of-repeat-expansion-loci/) - With a growing number of different pathogenic repeat expansions linked to human disease, genetic testing for this unique class of mutations is an important component of the diagnostic process for many patients. Particularly those experiencing symptoms associated with developmental delay, neuromuscular and neurodegenerative disorders. In previous posts, we’ve talked about the role of repeat expansions
- [Spotlight on hereditary kidney disorders](https://www.variantyx.com/company/blog/spotlight-on-hereditary-kidney-disorders/) - Overwhelmingly, most cases of kidney disease are the result of complications of diabetes or high blood pressure. However, roughly 10% of cases are hereditary in nature – a proportion that is significantly higher in children presenting with symptoms of kidney disease. In fact, there are more than 60 different genetic diseases that can affect kidney
- [Spotlight on hereditary peripheral neuropathies](https://www.variantyx.com/company/blog/spotlight-on-hereditary-peripheral-neuropathies/) - Peripheral neuropathy, or simply neuropathy, describes any condition that affects the normal activity of the network of nerves that form the peripheral nervous system. It is the peripheral nervous system that connects the brain and spinal cord to the rest of the body. Neuropathy is commonly acquired as a result of trauma or a systemic
- [Spotlight on Huntington’s disease](https://www.variantyx.com/company/blog/template-post/) - Huntington’s disease is a late-onset, neurodegenerative disorder. Symptoms typically first appear in the 30’s or 40’s, progressively worsening over a period of 10-25 years. As the disease progresses, individuals develop a range of physical, cognitive and behavioral symptoms. These may include: Movement symptoms: unsteady gait and/or balance, involuntary movements, muscle rigidity or contracture, slow eye movements,
- [September is Healthy Aging Month!](https://www.variantyx.com/company/blog/september-is-healthy-aging-month/) - Because it’s never too early or too late to ensure we’re on the right path with our health, we’re using the Healthy Aging Month campaign to take a look at the important benefits of proactive genetic testing. With the ability of whole genome sequencing (WGS) to provide access to our entire DNA sequence, we have
- [Cancer predisposition variants: looking beyond BRCA1/2](https://www.variantyx.com/company/blog/cancer-predisposition-variants-looking-beyond-brca1-2/) - Everyone has some risk of developing cancer. In fact, nearly 40% of people will be diagnosed with cancer at some time during their lifetime. Most often cancer is caused by mutations that arise as a consequence of DNA damage due to factors such as smoking or exposure to UV light, or as the result of
- [Disease predisposition risk: what to consider beyond cancer](https://www.variantyx.com/company/blog/disease-predisposition-risk-what-to-consider-beyond-cancer/) - In our previous post, we took a look at screening for cancer predisposition risk. Specifically delving into coverage of breast cancer risk variants in the BRCA1 and BRCA2 genes as well as other genes by different types of genetic tests. Today, we’re taking a look at disease predisposition risk for conditions other than cancer. We know
- [Whole genome clinical validation study](https://www.variantyx.com/company/blog/whole-genome-clinical-validation-study/) - Last week at the American Society of Human Genetics annual meeting we presented our poster on the clinical validation of our Genomic Unity® whole genome sequencing pipeline. This is the pipeline that supports our full Genomic Unity® Exome Plus Analysis as well as our more targeted Analyses, including Genomic Unity® Movement Disorders Analysis and others. We presented data demonstrating detection of: SNVs
- [3 strengths of WGS-based in-silico panel analysis](https://www.variantyx.com/company/blog/3-strengths-of-wgs-based-in-silico-panel-analysis/) - We’ve taken the approach of combining whole genome sequencing (WGS) with in-silico panel analysis for three key reasons: 1. Avoidance of amplification bias First, PCR-free WGS avoids the bias of amplification-based NGS methods used by targeted panel and exome tests. This provides consistent, even coverage across the entire genome which provides even better coverage of
- [Flexible in-silico panel expansion: A MEPAN case study](https://www.variantyx.com/company/blog/flexible-in-silico-panel-expansion-a-mepan-case-study/) - A couple of months ago we received an email from Danny Miller, founder of the MEPAN Foundation. He wrote with what, on the surface, would seem to be a simple request: would we consider adding the MECR gene to our movement disorder, mitochondrial and neurology in-silico panels? About MEPAN Not being specifically familiar with MEPAN, we
- [National kidney month: Literature round up](https://www.variantyx.com/company/blog/national-kidney-month-literature-round-up/) - March is National Kidney Month, and Thursday March 12, 2020 is World Kidney Day. Both strive to raise awareness about kidney health and to promote measures for prevention and detection of kidney disease. Given our commitment to the use of whole genome sequencing (WGS) for the diagnosis of rare inherited disease, last year we chose to
- [Get to know the genes behind epilepsy](https://www.variantyx.com/company/blog/get-to-know-the-genes-behind-epilepsy/) - We’ve previously looked at examples of the spectrum of genetic seizure disorders: ranging from syndromes where seizures are the only symptoms (for example, GEFS+ and Dravet syndrome) to disorders that manifest with seizures along with additional features such as intellectual disability (for example, Fragile X syndrome and Rett syndrome). We’ve also discussed how phenotypic overlap between different
- [Is WGS-based testing relevant for patients with suspected mitochondrial disease?](https://www.variantyx.com/company/blog/is-wgs-based-testing-relevant-for-patients-with-suspected-mitochondrial-disease/) - In short, yes! But let’s take a step back and start with what mitochondrial disease is. Mitochondria – the energy factories of our cells We have to start with mitochondria, which are small organelles within the cells of our body. They’re often thought of as the energy factories of our bodies. These little power houses
- [FXN: What you need to know for Friedreich’s ataxia patients](https://www.variantyx.com/company/blog/fxn-what-you-need-to-know-for-friedreichs-ataxia-patients/) - It’s well known that FXN variants cause Friedreich’s ataxia – a progressive form of ataxia that usually affects individuals before 25 years of age1. Because Friedreich’s ataxia is a recessive disorder, both alleles must be affected. It’s also well known that the most frequent form of variation is an abnormally expanded GAA repeat. In the vast majority
- [Helping Clinicians Solve Genetic Puzzles](https://www.variantyx.com/company/blog/helping-clinicians-solve-genetic-puzzles/) - In 2003, an international consortium of health institutes and government agencies completed “The Human Genome Project.” The significance of the announcement probably escaped a lot of nonscientists at the time. But back then, the scientific world considered the effort to sequence the three billion DNA letters in the human genome as one of the most
- [Variantyx Surpasses 2,500 Genomes Analyzed, Highlights the Value of Its WGS-Based Testing Methodology](https://www.variantyx.com/company/blog/variantyx-surpasses-2500-genomes-analyzed-highlights-the-value-of-its-wgs-based-testing-methodology/) - January 12, 2021 Clinicians at Variantyx, a leader in high complexity hereditary disease testing, recently completed analysis of their 2,500th patient genome. The milestone highlights the growing need for whole genome sequencing (WGS)-based tests in patient genetic diagnostics. Variantyx’s Genomic Unity® tests pair the patient’s complete DNA sequence with proprietary data analysis algorithms and phenotype-driven filters to
- [Ethics in Whole Genome Sequencing](https://www.variantyx.com/company/blog/ethics-in-whole-genome-sequencing/) - The use of whole-genome sequencing (WGS) in diagnostic testing brings up the topic of secondary findings or incidental findings for many clinicians. Secondary findings are variants associated with a condition other than the one for which the patient is tested. For instance, if a newborn baby has a suspected illness detected on prenatal ultrasound and
- [Variantyx Launches Its WGS-Based Prenatal Test for High-Risk Pregnancies, Enters Women’s Health Market](https://www.variantyx.com/company/blog/variantyx-launches-its-wgs-based-prenatal-test-for-high-risk-pregnancies-enters-womens-health-market/) - January 26, 2021 Variantyx, a leader in high complexity hereditary disease testing, announced today that it will launch its Genomic Unity® Prenatal Analysis (now IriSight® Comprehensive Analysis - Prenatal) test at the Society for Maternal Fetal Medicine’s 41st Annual Pregnancy Meeting being held virtually January 25-30. Its Genomic Unity® tests have been instrumental in resolving many complex patient cases.
- [Unavoidable vs optional incidental findings: What you need to know](https://www.variantyx.com/company/blog/unavoidable-vs-optional-incidental-findings-what-you-need-to-know/) - Given that genome sequencing has the potential to identify tens of thousands of variants in every patient sample tested, our GCs are often asked about how we handle incidental findings in our reporting. In this post we’ll explore the different types of possible findings and describe our reporting policies. Related vs unrelated findings Let’s start
- [Industry Voices – Whole-genome sequencing ultimately benefits payers](https://www.variantyx.com/company/blog/industry-voices-whole-genome-sequencing-ultimately-benefits-payers/) - When solving a problem, taking a step back and looking at the big picture is often a wise tactic. In the context of diagnosing patients with inherited disorders, looking at the big picture can be essential for identifying the underlying cause. Genetic testing based on whole-genome sequencing (WGS) does exactly that. Read the full article
- [Whole-genome sequencing and health insurance](https://www.variantyx.com/company/blog/whole-genome-sequencing-and-health-insurance/) - In the realm of genetic testing, insurance payers have been reluctant to recognize that there is a method of testing that gives physicians over 99% of the information that they need to solve current or even future medical puzzles related to genetics. When evaluating insurance policies, it’s important to know that whole-genome sequencing (WGS) offers the most
- [Variantyx Secures $20M in Funding for Whole Genome Sequencing Methodology, Advanced Testing Method that Diagnoses Genetic Disorders](https://www.variantyx.com/company/blog/variantyx-secures-20m-in-funding-for-whole-genome-sequencing-methodology-advanced-testing-method-that-diagnoses-genetic-disorders/) - March 15, 2021 Variantyx, a leader in high complexity hereditary disease testing, today announced that they secured $20M in funding for their Whole Genome Sequencing (WGS)-based testing methodology, an advanced genetic testing method currently used to diagnose rare inherited and neurological disorders. The series C funding round was led by GHS Fund (Quark Venture LP
- [Variantyx Expands Into Prenatal, Cancer Testing](https://www.variantyx.com/company/blog/variantyx-expands-into-prenatal-cancer-testing/) - Genomeweb | May 11, 2021 Variantyx, a genetic testing company offering clinical whole-genome sequencing-based assays, is expanding its menu to include prenatal and pan-cancer testing in the US. The firm’s Genomic Unity Prenatal Analysis test, to be used when an ultrasound identifies structural anomalies in a fetus, launched in January and will be available by
- [ACMG secondary findings updated list for reporting of secondary findings, for medically actionable genes in clinical exome and genome sequencing](https://www.variantyx.com/company/blog/acmg-secondary-findings-updated-list-for-reporting-of-secondary-findings-for-medically-actionable-genes-in-clinical-exome-and-genome-sequencing/) - ACMG secondary findings updated list for reporting of secondary findings, for medically actionable genes in clinical exome and genome sequencing. The American College of Medical Genetics and Genomics (ACMG) recently published updated guidance for reporting secondary findings in the context of clinical exome and genome Analyses1. This updated list now consists of 73 genes for
- [Variantyx and Robert-Bosch Hospital team up to improve personalized oncology treatment](https://www.variantyx.com/company/blog/variantyx-and-robert-bosch-hospital-team-up-to-improve-personalized-oncology-treatment/) - STUTTGART, Germany, Nov. 15, 2021 PRNewswire Robert Bosch Venture Capital GmbH, the corporate venture capital company of the Bosch Group, has completed an investment in Variantyx Inc. Variantyx and Robert-Bosch Hospital join forces to improve personalized oncology treatment with plans to incorporate the Variantyx solution into the oncology treatment process. Variantyx provides clinicians with advanced diagnostics
- [Variantyx Winter Holiday Hours of Operation](https://www.variantyx.com/company/blog/variantyx-winter-holiday-hours-of-operation/) - Valued Customers, We would like to update you on our winter holiday hours of operation: Our offices will be closed on December 24th in observance of Christmas Day and December 31st in observance of New Year’s Day. Variantyx will operate normally on all other days during the holiday season. To ensure the fresh transfer of
- [Technology-Driven Precision Medicine Company Variantyx Secures $41.5M in Funding](https://www.variantyx.com/company/blog/technology-driven-precision-medicine-company-variantyx-secures-41-5m-in-funding/) - Funding Round is Led by New Era Capital Partners and Includes Peregrine Ventures, Robert Bosch Venture Capital, 20/20 HealthCare Partners, and Pitango HealthTech FRAMINGHAM, Mass., Feb. 14, 2022 PRNewswire — Variantyx, a technology-driven precision medicine company providing advanced genomic testing for the rare genetic disorders, reproductive health, and precision oncology markets, today announced they have secured $41.5M in funding. The
- [Company Spotlight Series: Lucy Kaplun](https://www.variantyx.com/company/blog/company-spotlight-series-lucy-kaplun/) - Meet Lucy Kaplun, Director of Advanced Development at Variantyx! I was born in the USSR, a country that doesn’t exist anymore, and witnessed it falling apart. My family and I lived in Tajikistan until I was 18 years old, and unfortunately after the country became independent, we had to flee to Israel from a civil
- [Jansen’s Story](https://www.variantyx.com/company/blog/jansens-story/) - A Rare Disease Day Interview of One Family’s Journey Edited by Kyle W. Davis, CGC and Marimac Moore In honor of Rare Disease Day 2022, we want to introduce you to Jansen. For 10 years, Jansen was a girl in search of a diagnosis for her puzzling neurological and developmental symptoms. After her diagnosis, we
- [Getting to a Lifetime Genetic Textbook for Treating Disease](https://www.variantyx.com/company/blog/getting-to-a-lifetime-genetic-textbook-for-treating-disease/) - As a society, how much should be invested in creating a “transformative textbook of medicine, with insights that will give health care providers immense new power to treat, prevent and cure disease”? In this case, it is a trick question. The investment has already been made … Read the full article at Healthcare IT Today.
- [Company Spotlight Series: Nizan Stern Braun](https://www.variantyx.com/company/blog/company-spotlight-series-nizan-stern-braun/) - The beginning of my career was quite different from where I am today. It started with graduating from the Hebrew University of Jerusalem with a Bachelor’s Degree in Economics and Accounting. During my final year of college, I realized that I could not see myself becoming an accountant and instead felt passionate about pursuing a
- [Spotlight on Fragile X syndrome](https://www.variantyx.com/company/blog/spotlight-on-fragile-x-syndrome/) - Fragile X syndrome (FXS) is one of the most common heritable forms of intellectual disability, occurring in approximately 1 in 4,000 males and 1 in 8,000 females. Patients are most often diagnosed at roughly 3 to 4 years of age after a lengthy period of evaluation and testing. Signs and symptoms of fragile X syndrome
- [Spotlight on inherited ataxias](https://www.variantyx.com/company/blog/spotlight-on-inherited-ataxias/) - In its most basic form, ataxia is a neurological symptom. It’s defined specifically as a lack of muscle control or coordination of voluntary movements that is not caused by muscle weakness. Instead, it is caused by damage to the nervous system, or by dysfunction linked to the nervous system – for example, the inner ear
- [Company Spotlight Series: Elizabeth Wing](https://www.variantyx.com/company/blog/company-spotlight-series-elizabeth-wing/) - Meet Elizabeth Wing, Manager of Laboratory Services at Variantyx! My path towards becoming the Laboratory Services Manager at Variantyx has been a winding one. Growing up, I was always passionate about the sciences and helping others, but wasn’t sure where it would lead me. I graduated from Coastal Carolina with my bachelor’s degree in Marine
- [Variantyx welcomes two new Novaseq XPlus sequencers](https://www.variantyx.com/company/blog/variantyx-welcomes-two-new-novaseq-xplus-sequencers/) - Today we officially welcomed two new Illumina Novaseq XPlus sequencers with a company-wide ribbon cutting ceremony. We can’t wait to complete validation (already under way!) and begin running new patient samples through these powerful machines. For more information about the Novaseq X series, see the Illumina website.
- [Variantyx updates secondary findings reporting policy to ACMG v3.2](https://www.variantyx.com/company/blog/variantyx-updates-secondary-findings-reporting-policy-to-acmg-v3-2/) - Just 13 days ago, June 22nd to be exact, the American College of Medical Genetics and Genomics (ACMG) published the annual update to their list of recommended genes for reporting secondary findings identified by clinical exome and genome sequencing1. The list is important because it represents a minimum set of genes that can confer an
- [Company Spotlight Series: Greice Krautz-Peterson](https://www.variantyx.com/company/blog/company-spotlight-series-greice-krautz-peterson/) - Meet Greice, Associate Director of Germline Assay Development at Variantyx! I am from Brazil but have been living in the US for over 20 years. I love my native country and its incredible culture, but I also love and admire the US, so it is no surprise that I see myself as half Brazilian and
- [PGx testing informs clinical management for cancer patients](https://www.variantyx.com/company/blog/pgx-testing-informs-clinical-management-for-cancer-patients/) - Somatic testing of solid tumors has become the standard of care. Specific mutations in genes such as BRAF, EGFR, NTRK and others may help in the selection of targeted therapies that effectively attack the cancer. With >70% of cancer drugs in development representing precision medicines, targeted therapies are going to continue to grow1. Pharmacogenomic (PGx)
- [Variantyx Announces Additional Investment Enabling Rapid Expansion of Its Commercial Footprint](https://www.variantyx.com/company/blog/variantyx-announces-additional-investment-enabling-rapid-expansion-of-its-commercial-footprint/) - FRAMINGHAM, Mass. October 18, 2023 (PRNewswire) - Variantyx, a leader in genomic precision medicine today, announced that it has secured additional funding from its portfolio of investors which includes Robert Bosch Venture Capital, Pitango HealthTech, New Era Capital Partners, 20/20 HealthCare Partners and Peregrine Ventures. The technology-driven provider of advanced genomic testing for genetic disorders,
- [Variantyx Expands Its Reproductive Health Offerings with Launch of a Direct Replacement for Chromosomal Microarray Analysis](https://www.variantyx.com/company/blog/variantyx-expands-its-reproductive-health-offerings-with-launch-of-a-direct-replacement-for-chromosomal-microarray-analysis/) - FRAMINGHAM, Mass. November 10, 2023 (PRNewswire) - Variantyx, a leader in genomic precision medicine, today announced the launch of its IriSight® CNV Analysis - a whole genome-based test for the detection of chromosomal abnormalities that correlate with clinical symptoms manifested in a fetus or a pregnancy, that may result in a genetic disorder or pregnancy
- [Expanded STR Detection Capability Enables Variantyx to Diagnose Additional Genetic Disorders](https://www.variantyx.com/company/blog/expanded-str-detection-capability-enables-variantyx-to-diagnose-additional-genetic-disorders/) - FRAMINGHAM, Mass. November 30, 2023 (PRNewswire) - Variantyx, a leader in genomic precision medicine, today announced that the set of short tandem repeat (STR) expansions detected by its Genomic Unity® line of whole genome-based tests has been expanded. With these additions, Variantyx becomes one of the first laboratories to offer testing for two recently characterized
- [Variantyx Secures $36M Investment As Testing Demand And Market Share Continues To Increase](https://www.variantyx.com/company/blog/variantyx-secures-36m-investment-as-testing-demand-and-market-share-continues-to-increase/) - FRAMINGHAM, Mass. April 26, 2024 (Business Wire) – Variantyx, a leader in molecular diagnostics, announced today that it has secured an additional $36 million in funding from its portfolio of investors which includes Peregrine Ventures, Pitango HealthTech, New Era Capital Partners and Bosch Ventures. The company, a technology-driven provider of advanced genomic testing for genetic
- [Longer ZFHX3 repeat lengths correlate with earlier age of onset of SCA4](https://www.variantyx.com/company/blog/longer-zfhx3-repeat-lengths-correlate-with-earlier-age-of-onset-of-sca4/) - For years scientists believed they knew where the causal gene for spinocerebellar ataxia (SCA4) could be found, but the identity of the precise gene remained a mystery. Recently, two publications finally provided the answer: ZFHX3 1,2. Individuals with SCA4 show expansion of the GGC repeat located within the final exon of ZFHX3, combined with a
- [Variantyx Brings the First Combined Short- and Long-Read Whole Genome Sequencing Test to Market with Genomic Unity® 2.0](https://www.variantyx.com/company/blog/variantyx-brings-the-first-combined-short-and-long-read-whole-genome-sequencing-test-to-market-with-genomic-unity-2-0/) - FRAMINGHAM, Mass. September 18, 2024 (Business Wire) – Variantyx, a leading molecular diagnostics lab, today announced the launch of Genomic Unity® 2.0, a novel whole genome-based diagnostic test. This advanced test integrates traditional short-read genome sequencing with third-generation long-read genome sequencing, detecting genetic variants that are missed by other methodologies and improving diagnostic yield. Christine
- [Variantyx Combines Long and Short Reads for Rare Disease Whole-Genome Diagnostic Test](https://www.variantyx.com/company/blog/variantyx-combines-long-and-short-reads-for-rare-disease-whole-genome-diagnostic-test/) - GenomeWeb recently wrote a profile on Genomic Unity 2.0® – the first commercially available test to incorporate third-generation long-read Oxford Nanopore sequencing alongside short-read sequencing in a clinical diagnostic context: “Genetic testing firm Variantyx has launched a rare disease diagnostic test that combines short- and long-read whole-genome sequencing and promises to deliver more comprehensive variant
- [Improving Clinical Diagnostics of Repeat Expansion Disorders with Combined Short and Long-Read WGS](https://www.variantyx.com/company/blog/improving-clinical-diagnostics-of-repeat-expansion-disorders-with-combined-short-and-long-read-wgs/) - See how our use of combined short and long-read WGS is improving diagnostic performance of testing for neurological disorders caused by repeat expansions.
- [Introducing a Curated Cardiomyopathies and Arrhythmia Panel with Unparalleled Specificity, Sensitivity and Clinical Utility](https://www.variantyx.com/company/blog/introducing-a-curated-cardiomyopathies-and-arrhythmia-panel-with-unparalleled-specificity-sensitivity-and-clinical-utility/) - Hereditary cardiomyopathies and arrhythmias are major contributors to morbidity and mortality worldwide. Cardiomyopathy refers to primary disorders of the cardiac muscle, often caused by dysfunction of sarcomere proteins. Clinical subtypes include hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM), and left ventricular noncompaction (LVNC). Cardiac arrhythmias are disorders of the heart’s electrical conduction system,
- [Variantyx Expands into Germline Hematologic Cancer Testing with Two New Tests](https://www.variantyx.com/company/blog/variantyx-expands-into-germline-hematologic-cancer-testing/) - We have expanded our clinical testing portfolio with the launch of two new germline assays designed to address the unique challenges of hematologic cancer testing. OncoAlly® Hereditary Hematologic Cancer Analysis provides targeted analysis of 110 genes associated with lymphoid and myeloid malignancies. Genomic Unity® Pediatric Hematologic Disorders Analysis takes a similar approach for rare disease
- [Company Spotlight Series: Daniel Avinoam](https://www.variantyx.com/company/blog/company-spotlight-series-daniel-avinoam/) - Meet Daniel Avinoam, Laboratory Operations Automation Specialist at Variantyx! I've always been fascinated by the inner workings of the world. My love for understanding how things work led me to study physics and math at Clark University, where I gained a deeper appreciation for the world of engineering and development. As a first-generation college graduate,

## Pages

- [Home](https://www.variantyx.com/) - Discover Variantyx's whole-genome sequencing diagnostics for rare genetic disorders, reproductive genetics & precision oncology. Get answers.
- [Case Study: ENG Splicing Variant Provides Hereditary Hemorrhagic Telangiectasia Type 1 Diagnosis](https://www.variantyx.com/resources/case-studies/eng-splicing-hereditary-hemorrhagic-telangiectasia-type-1/) - ENG splicing variant explains hydrops observed at 22 weeks gestation, with implications for maternal medical management.
- [Genomic Unity® Lightning 2.0 Genome Analysis - NICU](https://www.variantyx.com/products-services/rare-disorder-genetics/rapid-genome/lightning-2-0/) - Genomic Unity® Lightning 2.0 Genome Analysis - NICU is a rapid diagnostic test for acutely ill individuals in the NICU/PICU. It combines short and long-read genome sequencing to identify genetic variants that correlate with the patient’s phenotype.
- [Case Studies](https://www.variantyx.com/resources/case-studies/) - Missed By Others, Detected By Us See More From the Very First Test One Test, Dual Diagnosis
- [Case Study: MED12 SNV Provides X-linked MED12-related Disorders Diagnosis](https://www.variantyx.com/resources/case-studies/med12-snv-x-linked-med12-related-disorders/) - MED12 variant explains congenital diaphragmatic hernia observed at 28 weeks gestation.
- [Repeat Expansions Analyzed](https://www.variantyx.com/genomic-unity-strs/) - Our whole genome platform detects the characterized repeats listed below.All of the listed repeats are analyzed by the following comprehensive analyses: Genomic Unity® 2.0 Genomic Unity® Whole Genome Analysis Genomic Unity® Exome Plus Analysis Genomic Unity® Exome Analysis. Some of the listed repeats are analyzed by our Neurology Analyses and/or Other Targeted Analyses. The relevant tests are
- [Case Study: FGF14 Expansions Provide Spinocerebellar Ataxia 27B Diagnosis](https://www.variantyx.com/resources/case-studies/fgf14-expansions-spinocerebellar-ataxia-27b/) - Case Study: Biallelic FGF14 expansions explain progressive gait imbalance in 66 year-old-male.
- [We See More in Epilepsy](https://www.variantyx.com/providers/the-variantyx-difference/epilepsy-genetic-testing/) - All epilepsy genetic tests are not equal. With our whole genome platform we see more. More variants, with greater resolution, all with one sample.
- [Case Study: PHOX2B Expansion Provides Congenital Central Hypoventilation Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/phox2b-expansion-congenital-central-hypoventilation-syndrome/) - Case study: PHOX2B expansion explains hypoventilation and aganglionic colon in 7-day-old critically ill newborn.
- [Case Study: BEAN1 Expansion Provides Spinocerebellar Ataxia 31 Diagnosis](https://www.variantyx.com/resources/case-studies/ataxia-case-1/) - Case Study: Long-read sequencing provides a Spinocerebellar ataxia 31 (SCA31) diagnosis in a 73 year-old-male.
- [Genomic Unity® Lightning Genome Analysis](https://www.variantyx.com/products-services/lightning-genome/) - Genomic Unity® Lightning Genome Analysis is a rapid diagnostic test for acutely ill individuals in the NICU, PICU or ICU designed to identify genetic variants that correlate with the patient’s phenotype.
- [Rapid Genome](https://www.variantyx.com/products-services/rare-disorder-genetics/rapid-genome/) - Genomic Unity® Lightning Genome Analyses use short and long-read WGS for the fastest path to a clear diagnostic outcome in acutely ill patients.
- [Long-Read Whole Genome Sequencing](https://www.variantyx.com/providers/the-variantyx-difference/long-read-whole-genome-sequencing/) - Extending the capabilities of traditional short-read sequencing, long-read sequencing provides an even more complete view of the genome, enabling even more diagnoses.
- [Genomic Unity® Lightning 2.0 Genome Analysis - Standard](https://www.variantyx.com/products-services/rare-disorder-genetics/rapid-genome/lightning-2-0-standard/) - Genomic Unity® Lightning 2.0 Genome Analysis is a rapid diagnostic test for acutely ill individuals. It combines short and long-read genome sequencing to identify genetic variants that correlate with the patient’s phenotype.
- [Genomic Unity® 2.0](https://www.variantyx.com/genomic-unity-2-0/) - Genomic Unity® 2.0 is a diagnostic test that combines short and long-read genome sequencing to identify genetic variants that correlate with the patient’s phenotype.
- [DAB1 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/dab1-repeat-expansion-testing/) - Genomic Unity® 2.0 analyzes the DAB1 repeat that causes spinocerebellar ataxia 37 (SCA37) when expanded. DAB1 is just one of >40 expansion genes analyzed by Variantyx tests.
- [Licenses](https://www.variantyx.com/resources/licenses/) - Variantyx has CLIA and CAP certification as well as multiple state licenses. If you have any questions about lab certificates and licenses, please contact us via the Contact Us page.
- [Patient Assistance Program - Rare Disease](https://www.variantyx.com/resources/patient-resources/patient-assistance-program-rare-disease/) - At Variantyx we're dedicated to making comprehensive genomic testing affordable and accessible to all patients with a medical necessity. For eligible participants, our Patient Assistance Program may help reduce associated out-of-pocket costs.
- [Patient Assistance Program - Reproductive](https://www.variantyx.com/resources/patient-resources/patient-assistance-program-reproductive/) - At Variantyx we're dedicated to making comprehensive genomic testing affordable and accessible to all patients with a medical necessity. For eligible participants, our Patient Assistance Program may help reduce associated out-of-pocket costs.
- [Ataxia Genetic Testing with Genomic Unity®](https://www.variantyx.com/patients/rare-genetic-disorders/ataxia-genetic-testing-with-genomic-unity/) - Genomic Unity® provides the most comprehensive genetic testing available for ataxia and other movement disorders.
- [We See More in Ataxia](https://www.variantyx.com/providers/the-variantyx-difference/ataxia-genetic-testing/) - All ataxia genetic tests are not equal. With our whole genome platform we see more. More variants, with greater resolution, all with one sample.
- [TBP Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/tbp-repeat-expansion-testing/) - Multiple Variantyx tests analyze the TBP repeat that causes spinocerebellar ataxia 17 (SCA17) when expanded. TBP is just one of >40 expansion genes analyzed by Variantyx tests.
- [SAMD12 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/samd12-repeat-expansion-testing/) - Genomic Unity® 2.0 analyzes the SAMD12 repeat that causes familial adult onset myoclonic epilepsy 1 (FAME1) when expanded. SAMD12 is just one of >40 expansion genes analyzed by Variantyx tests.
- [RILPL1 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/rilpl1-repeat-expansion-testing/) - Genomic Unity® 2.0 analyzes the RILPL1 repeat that causes oculopharyngodistal myopathy-4 (OPDM4) when expanded. RILPL1 is just one of >40 expansion genes analyzed by Variantyx tests.
- [PPP2R2B Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/ppp2r2b-repeat-expansion-testing/) - Multiple Variantyx tests analyze the PPP2R2B repeat that causes spinocerebellar ataxia 12 (SCA12) when expanded. PPP2R2B is just one of >40 expansion genes analyzed by Variantyx tests.
- [PABPN1 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/pabpn1-repeat-expansion-testing/) - Multiple Variantyx tests analyze the PABPN1 repeat that causes oculopharyngeal muscular dystrophy (OPMD) when expanded. PABPN1 is just one of >40 expansion genes analyzed by Variantyx tests.
- [NOTCH2NLC Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/notch2nlc-repeat-expansion-testing/) - Multiple Variantyx tests analyze the NOTCH2NLC repeat that causes multiple different neurological diseases when expanded. NOTCH2NLC is just one of >40 expansion genes analyzed by Variantyx tests.
- [NOP56 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/nop56-repeat-expansion-testing/) - Multiple Variantyx tests analyze the NOP56 repeat that causes spinocerebellar ataxia 36 (SCA36) when expanded. NOP56 is just one of >40 expansion genes analyzed by Variantyx tests.
- [LRP12 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/lrp12-repeat-expansion-testing/) - Multiple Variantyx tests analyze the LRP12 repeat that causes oculopharyngodistal myopathy 1 (OPDM1) when expanded. LRP12 is just one of >40 expansion genes analyzed by Variantyx tests.
- [GIPC1 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/gipc1-repeat-expansion-testing/) - Multiple Variantyx tests analyze the GIPC1 repeat that causes oculopharyngodistal myopathy 2 (OPDM2) when expanded. GIPC1 is just one of >40 expansion genes analyzed by Variantyx tests.
- [DMPK Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/dmpk-repeat-expansion-testing/) - Multiple Variantyx tests analyze the DMPK repeat that causes myotonic dystrophy type 1 (DM1) when expanded. DMPK is just one of >40 expansion genes analyzed by Variantyx tests.
- [DIP2B Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/dip2b-repeat-expansion-testing/) - Multiple Variantyx tests analyze the DIP2B repeat that causes FRA12A type intellectual developmental disorder when expanded. DIP2B is just one of >40 expansion genes analyzed by Variantyx tests.
- [CNBP Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/cnbp-repeat-expansion-testing/) - Multiple Variantyx tests analyze the CNBP repeat that causes myotonic dystrophy type 2 (DM2) when expanded. CNBP is just one of >40 expansion genes analyzed by Variantyx tests.
- [C9orf72 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/c9orf72-repeat-expansion-testing/) - Multiple Variantyx tests analyze the C9ORF72 repeat that causes FTD/ALS1 when expanded. C9ORF72 is just one of >40 expansion genes analyzed by Variantyx tests.
- [BEAN1 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/bean1-repeat-expansion-testing/) - Genomic Unity® 2.0 analyzes the BEAN1 repeat that causes spinocerebellar ataxia 31 (SCA31) when expanded. BEAN1 is just one of >40 expansion genes analyzed by Variantyx tests.
- [ATXN8OS Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/atxn8os-repeat-expansion-testing/) - Multiple Variantyx tests analyze the ATXN8OS repeat that causes spinocerebellar ataxia 8 (SCA8) when expanded. ATXN8OS is just one of >40 expansion genes analyzed by Variantyx tests.
- [ATXN7 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/atxn7-repeat-expansion-testing/) - Multiple Variantyx tests analyze the ATXN7 repeat that causes spinocerebellar ataxia 7 (SCA7) when expanded. ATXN7 is just one of >40 expansion genes analyzed by Variantyx tests.
- [ATXN3 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/atxn3-repeat-expansion-testing/) - Multiple Variantyx tests analyze the ATXN3 repeat that causes spinocerebellar ataxia 3 (SCA3) when expanded. ATXN3 is just one of >40 expansion genes analyzed by Variantyx tests.
- [ATXN2 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/atxn2-repeat-expansion-testing/) - Multiple Variantyx tests analyze the ATXN2 repeat that causes spinocerebellar ataxia 2 (SCA2) when expanded. ATXN2 is just one of >40 expansion genes analyzed by Variantyx tests.
- [ATXN1 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/atxn1-repeat-expansion-testing/) - Multiple Variantyx tests analyze the ATXN1 repeat that causes spinocerebellar ataxia 1 (SCA1) when expanded. ATXN1 is just one of >40 expansion genes analyzed by Variantyx tests.
- [Case Study: MT-ATP6 Mitochondrial SNV Provides Primary Mitochondrial Disease Diagnosis](https://www.variantyx.com/resources/case-studies/mt-atp6-mitochondrial-snv-primary-mitochondrial-disease/) - Homoplasmic mitochondrial SNV uncovers recurrent familial variant in a fetus at 15 weeks gestation.
- [Case Study: SNRPB Intronic Variant Provides Cerebrocostomandibular Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/snrpb-intronic-variant-cerebrocostomandibular-syndrome/) - Deep intronic SNRPB variant explains micro and retrognathia in a fetus at 25 weeks gestation.
- [Case Study: TP53 Intronic Deletion Provides Li-Fraumeni Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/tp53-intronic-deletion-li-fraumeni-syndrome/) - Case Study: TP53 intronic deletion provides a Li-Fraumeni syndrome diagnosis in 45 year-old-male with family history significant for multiple cancers.
- [Case Study: SDHB Deletion Provides Hereditary Paraganglioma Syndrome 4 Diagnosis](https://www.variantyx.com/resources/case-studies/sdhb-deletion-hereditary-paraganglioma-syndrome-4/) - Case Study: SDHB single exon deletion informs paraganglioma management in 44 year-old-male.
- [Genomic Unity® Dementia Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/neurology-focused-targeted-analyses/genomic-unity-dementia-analysis/) - Genomic Unity® Dementia Analysis is a diagnostic test designed to identify genetic variants that cause dementia.
- [Genomic Inform®](https://www.variantyx.com/products-services/genomic-inform/) - Genomic Inform® is a genetic screening test for generally healthy individuals, 18 years of age or older.
- [Case Study: GCH1 Deletion Provides Dopa-Responsive Dystonia Diagnosis](https://www.variantyx.com/resources/case-studies/gch1-deletion-dopa-responsive-dystonia/) - A single exon deletion in the GCH1 gene explains the generalized muscle weakness observed in a 4-year-old female.
- [Raw Data Access](https://www.variantyx.com/resources/provider-resources/raw-data-access/) - Consent We require written consent before releasing raw sequence data to the patient or guardian, the ordering healthcare provider or another third party. Please complete and return our Request for Genetic Test Results Release form to family-relations@variantyx.com. Sequence Data Access Once the consent form has been received, our Clinical Coordination team will reach out via
- [Case Study: COL4A5 Inversion Provides Alport Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/col4a5-inversion-alport-syndrome/) - An inversion disrupting the COL4A5 gene explains a 4 year old male's clinical Alport syndrome diagnosis.
- [Case Study: FBN1 Intronic Variant Provides Marfan Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/fbn1-intronic-variant-marfan-syndrome/) - Deep intronic FBN1 variant explains aortic root aneurysm and other clinical features of male in his 30s.
- [Case Study: De Novo Unmethylated MAGEL2 Indel Provides Schaaf-Young Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/magel2-indel-schaaf-young-syndrome/) - De novo unmethylated MAGEL2 indel provides Schaaf-Young syndrome diagnosis in 8 year old female.
- [Case Study: CHR15 Aberrant Methylation Provides Prader-Willi Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/chr15-aberrant-methylation-prader-willi-syndrome/) - Aberrant methylation of SNURF and MAGEL2 regions of chromosome 15 provides Prader-Willi syndrome diagnosis for 14 month old female.
- [Case Study: GRIA2 Partial Exon Deletion Provides Neurodevelopmental Disorder Diagnosis](https://www.variantyx.com/resources/case-studies/gria2-deletion-neurodevelopmental-disorder/) - Partial exon deletion explains severe hypotonia, developmental delay and other clinical features of 2 year old male.
- [Case Study: De Novo UBE3A Indel Phasing Provides Angelman Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/ube3a-indel-phasing-angelman-syndrome/) - Phasing of a de novo UBE3A indel using long reads determines maternal parent of origin and provides Angelman syndrome diagnosis for 5 month old female.
- [Case Study: GYG1 Phasing Provides Polyglucosan Body Myopathy Diagnosis](https://www.variantyx.com/resources/case-studies/gyg1-phasing-polyglucosan-body-myopathy/) - Phasing of GYG1 variants using long reads determines trans orientation and provides polyglucosan body myopathy diagnosis for 66 year old female.
- [Case Study: KDM5B Phasing Provides Intellectual Developmental Disorder Diagnosis](https://www.variantyx.com/resources/case-studies/kdm5b-phasing-intellectual-developmental-disorder/) - Phasing of KDM5B SNV and deletion variants using long reads determines trans orientation and provides intellectual disability diagnosis for 2 year old female.
- [Case Study: RFC1 Expansions Provide CANVAS Diagnosis](https://www.variantyx.com/resources/case-studies/rfc1-expansions-canvas/) - Case Study: Biallelic RFC1 expansions confirm clinical CANVAS diagnosis in 70 year-old-male.
- [Case Study: FXN Expansions Provide Friedreich Ataxia Diagnosis](https://www.variantyx.com/resources/case-studies/ataxia-case-2/) - Case Study: Whole genome sequencing provides an ataxia diagnosis that enables access to treatment options in a 10 year-old-male.
- [Case Study: SYNGAP1 Variant Provides SYNGAP1-Related Disorders Diagnosis](https://www.variantyx.com/resources/case-studies/syngap1-variant-syngap1-related-disorders/) - Case Study: SYNGAP1 SNV explains developmental delays in 10-year-old female after series of 20+ negative genetic tests.
- [Case Study: COLQ Deletion Plus CFTR SNVs Provide Congenital Myasthenic Syndrome 5 and Cystic Fibrosis Diagnoses](https://www.variantyx.com/resources/case-studies/colq-deletion-cftr-snvs-congenital-myasthenic-syndrome-5-cystic-fibrosis/) - Case Study: Homozygous single exon deletion and SNV variants provide two independent diagnoses in 15-year-old male.
- [Case Study: UBE3B Deletion Provides Kaufman Oculocerebrofacial Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/ube3b-deletion-kaufman-oculocerebrofacial-syndrome/) - Case Study: UBE3B partial exon deletion completes Kaufman oculocerebrofacial syndrome diagnosis in 6-year-old male.
- [Case Study: C9orf72 Expansion Provides FTD/ALS Diagnosis](https://www.variantyx.com/resources/case-studies/c9orf72-expansion-ftd-als/) - Case Study: c9orf72 expansion explains progressive leg weakness and spasticity in 54 year-old-male.
- [Case Study: TRIO Deletion Provides Intellectual Developmental Disorder Diagnosis](https://www.variantyx.com/resources/case-studies/trio-deletion-intellectual-developmental-disorder/) - Case Study: TRIO single exon deletion explains intellectual disability in 10-year-old female.
- [Case Study: CDKL5 Deletion Provides Developmental and Epileptic Encephalopathy 2 Diagnosis](https://www.variantyx.com/resources/case-studies/cdkl5-deletion-developmental-epileptic-encephalopathy-2/) - Case Study: Single exon deletion explains epilepsy and developmental delay in 2-year-old male.
- [Case Study: VPS13A MEI And SNV Provide Chorea-acanthocytosis Diagnosis](https://www.variantyx.com/resources/case-studies/vps13a-mei-snv-chorea-acanthocytosis/) - Case Study: Compound heterozygous mobile element insertion and SNV explains progressive dysphagia in 42-year-old male.
- [Case Study: SBDS Splice Variants Provide Shwachman-Diamond Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/sbds-splice-variants-shwachman-diamond-syndrome/) - Case Study: Trans splice variants explain suspected skeletal dysplasia in newborn female.
- [Case Study: Overlapping COL18A1 Indels Provide Knobloch Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/col18a1-indels-knobloch-syndrome/) - Case Study: Overlapping 1 bp and 7 bp indels in COL18A1 explain retinal symptoms in 11-year-old male.
- [Case Study: SATB2 Inversion Provides Glass Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/satb2-inversion-glass-syndrome/) - Case Study: SATB2 inversion explains developmental delay and physical anomalies in 11-year-old male.
- [Case Study: FXN Variants Provide Friedreich Ataxia Diagnosis](https://www.variantyx.com/resources/case-studies/fxn-expansions-friedreich-ataxia/) - Case Study: Compound heterozygous FXN variants explain progressive gait disturbance in 39-year-old female.
- [Case Study: Mitochondrial Deletion Provides Mitochondrial DNA Deletion Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/mitochondrial-deletion-mitochondrial-dna-deletion-syndrome/) - Case Study: Heteroplasmic mitochondrial deletion explains multiorgan dysfunction in 19-year-old female.
- [Case Study: TH Variants Provide Segawa Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/th-variants-segawa-syndrome/) - Case Study: Partial exon deletion plus deep intronic SNV explains juvenile parkinsonism in 16-year-old male.
- [Case Study: HYLS1 SNV Provides Joubert Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/hyls1-snv-joubert-syndrome/) - Case Study: SNV in perinatal lethal gene explains suspected Joubert syndrome diagnosis in 4-year-old male.
- [Case Study: PEX1 Deletion Provides Zellweger Spectrum Disorder Diagnosis](https://www.variantyx.com/resources/case-studies/pex1-deletion-zellweger-spectrum-disorder/) - Case Study: Single exon PEX1 deletion confirms suspected Zellweger spectrum disorder diagnosis in 2-year-old female.
- [Case Study: MECP2 Deletion Provides Rett Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/mecp2-deletion-rett-syndrome/) - Case Study: Partial exon deletion explains clinical Rett syndrome diagnosis in 9-year-old female.
- [Case Study: RNU7-1 Variants Provide Aicardi-Goutieres Syndrome 9 Diagnosis](https://www.variantyx.com/resources/case-studies/rnu7-1-variants-aicardi-goutieres-syndrome-9/) - Case Study: Compound heterozygous variants in an sncRNA explains multisystemic symptoms in 4-year-old male.
- [Case Study: KLHL40 3'UTR Variant Provides Nemaline Myopathy 8 Diagnosis](https://www.variantyx.com/resources/case-studies/klhl40-3utr-variant-nemaline-myopathy-8/) - Case Study: Elusive KLHL40 3’-UTR second variant explains congenital nemaline myopathy in 7-year-old female.
- [Case Study: TLK2 Deletion Provides Intellectual Developmental Disorder 57 Diagnosis](https://www.variantyx.com/resources/case-studies/tlk2-deletion-intellectual-developmental-disorder-57/) - Case Study: Two exon TLK2 deletion explains global developmental delay and failure to thrive in 8-year-old female.
- [Case Study: DMD Deep Intronic Variant Provides Duchenne Muscular Dystrophy Diagnosis](https://www.variantyx.com/resources/case-studies/dmd-deep-intronic-duchenne-muscular-dystrophy/) - Case Study: Deep intronic DMD variant explains progressive myopathy in 19-year-old male.
- [Case Study: RPL35A Deletion Provides Diamond-Blackfan Anemia Diagnosis](https://www.variantyx.com/resources/case-studies/rpl35a-deletion-diamond-blackfan-anemia/) - Case Study: Heterozygous RPL35A gene deletion explains clinical Diamond-Blackfan anemia diagnosis in 53-year-old male.
- [Case Study: DIP2B Expansion Provides FRA12A Intellectual Disability Diagnosis](https://www.variantyx.com/resources/case-studies/dip2b-expansion-fra12a-intellectual-disability/) - Case Study: DIP2B repeat expansion explains developmental delay and symptoms of chronic functional disease in 10-year-old female.
- [Case Study: DMD Inversion Provides Duchenne Muscular Dystrophy Diagnosis](https://www.variantyx.com/resources/case-studies/dmd-inversion-duchenne-muscular-dystrophy/) - Case Study: Hemizygous DMD inversion provides genetic diagnosis, enabling access to treatment options for 16-year-old male.
- [Case Study: Chr15 UPD Provides Prader-Willi Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/chr15-upd-prader-willi-syndrome/) - Case Study: Uniparental disomy and aberrant methylation confirm clinical Prader-Willi syndrome diagnosis in 7-month-old female.
- [TCF4 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/tcf4-repeat-expansion-testing/) - Multiple Variantyx tests analyze the TCF4 repeat that causes Fuchs endothelial corneal dystrophy 3 when expanded. TCF4 is just one of >40 expansion genes analyzed by Variantyx tests.
- [RFC1 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/rfc1-repeat-expansion-testing/) - Multiple Variantyx tests analyze the RFC1 repeat that causes cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) when expanded. RFC1 is just one of >40 expansion genes analyzed by Variantyx tests.
- [PRNP Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/prnp-repeat-expansion-testing/) - Genomic Unity® 2.0 analyzes the PRNP repeat that causes prion diseases when expanded. PRNP is just one of >40 expansion genes analyzed by Variantyx tests.
- [JPH3 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/jph3-repeat-expansion-testing/) - Multiple Variantyx tests analyze the JPH3 repeat that causes Huntington disease-like 2 (HDL2) when expanded. JPH3 is just one of >40 expansion genes analyzed by Variantyx tests.
- [FGF14 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/fgf14-repeat-expansion-testing/) - Multiple Variantyx tests analyze the FGF14 GAA repeat that causes late-onset spinocerebellar ataxia 27B when expanded. FGF14 is just one of >40 expansion genes analyzed by Variantyx tests.
- [CACNA1A Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/cacna1a-repeat-expansion-testing/) - Multiple Variantyx tests analyze the CACNA1A repeat that causes spinocerebellar ataxia 6 (SCA6) when expanded. CACNA1A is just one of >40 expansion genes analyzed by Variantyx tests.
- [ZIC2 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/zic2-repeat-expansion-testing/) - Multiple Variantyx tests analyze the ZIC2 repeat that causes holoprosencephaly 5 syndrome (HPE5) when expanded. ZIC2 is just one of >40 expansion genes analyzed by Variantyx tests.
- [ZFHX3 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/zfhx3-repeat-expansion-testing/) - Multiple Variantyx tests analyze the ZFHX3 GGC repeat that causes spinocerebellar ataxia 4 (SCA4) when expanded. ZFHX3 is just one of >40 expansion genes analyzed by Variantyx tests.
- [VWA1 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/vwa1-repeat-expansion-testing/) - Multiple Variantyx tests analyze the VWA1 repeat that causes distal hereditary motor neuronopathy-7 (HMNR7) when expanded. VWA1 is just one of >40 expansion genes analyzed by Variantyx tests.
- [SOX3 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/sox3-repeat-expansion-testing/) - Multiple Variantyx tests analyze the SOX3 repeat that causes PHPX and XLMR when expanded. SOX3 is just one of >40 expansion genes analyzed by Variantyx tests.
- [RUNX2 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/runx2-repeat-expansion-testing/) - Genomic Unity® 2.0 analyzes the RUNX2 repeat that causes cleidocranial dysplasia when expanded. RUNX2 is just one of >40 expansion genes analyzed by Variantyx tests.
- [PRDM12 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/prdm12-repeat-expansion-testing/) - Genomic Unity® 2.0 analyzes the PRDM12 repeats that cause MiTES and HSAN8 when expanded. PRDM12 is just one of >40 expansion genes analyzed by Variantyx tests.
- [PHOX2B Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/phox2b-repeat-expansion-testing/) - Multiple Variantyx tests analyze the PHOX2B repeat that causes congenital central hypoventilation syndrome (CCHS) when expanded. PHOX2B is just one of >40 expansion genes analyzed by Variantyx tests.
- [HTT Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/htt-repeat-expansion-testing/) - Multiple Variantyx tests analyze the HTT repeat that causes Huntington disease (HD) when expanded. HTT is just one of >40 expansion genes analyzed by Variantyx tests.
- [HOXA13 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/hoxa13-repeat-expansion-testing/) - Genomic Unity® 2.0 analyzes the HOXA13 repeats that cause hand-foot-genital syndrome when expanded. HOXA13 is just one of >40 expansion genes analyzed by Variantyx tests.
- [GLS Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/gls-repeat-expansion-testing/) - Multiple Variantyx tests analyze the GLS repeat that causes global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) when expanded. GLS is just one of >40 expansion genes analyzed by Variantyx tests.
- [FXN Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/fxn-repeat-expansion-testing/) - Multiple Variantyx tests analyze the FXN repeat that causes Friedreich ataxia (FRDA) when expanded. FXN is just one of >40 expansion genes analyzed by Variantyx tests.
- [FOXL2 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/foxl2-repeat-expansion-testing/) - Multiple Variantyx tests analyze the FOXL2 repeat that causes autosomal dominant blepharophimosis, ptosis, and epicanthus inversus syndrome type II (BPES II) when expanded. FOXL2 is just one of >40 expansion genes analyzed by Variantyx tests.
- [FMR1 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/fmr1-repeat-expansion-testing/) - Multiple Variantyx tests analyze the FMR1 repeat that causes fragile X syndrome (FXS) when expanded. FMR1 is just one of >40 expansion genes analyzed by Variantyx tests.
- [CSTB Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/cstb-repeat-expansion-testing/) - Multiple Variantyx tests analyze the CSTB repeat that progressive myoclonic epilepsy type 1 (EPM1) when expanded. CSTB is just one of >40 expansion genes analyzed by Variantyx tests.
- [ATXN10 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/atxn10-repeat-expansion-testing/) - Multiple Variantyx tests analyze the ATXN10 repeat that causes spinocerebellar ataxia 10 (SCA10) when expanded. ATXN10 is just one of >40 expansion genes analyzed by Variantyx tests.
- [ATN1 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/atn1-repeat-expansion-testing/) - Multiple Variantyx tests analyze the ATN1 repeat that causes DRPLA when expanded. ATN1 is just one of >40 expansion genes analyzed by Variantyx tests.
- [ARX Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/arx-repeat-expansion-testing/) - Multiple Variantyx tests analyze the ARX repeat that causes X-linked neurodevelopmental disorders when expanded. ARX is just one of >40 expansion genes analyzed by Variantyx tests.
- [AR Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/ar-repeat-expansion-testing/) - Multiple Variantyx tests analyze the AR repeat that causes spinal and bulbar muscular atrophy when expanded. AR is just one of >40 expansion genes analyzed by Variantyx tests.
- [AFF2 Repeat Expansion Testing](https://www.variantyx.com/genomic-unity-strs/aff2-repeat-expansion-testing/) - Multiple Variantyx tests analyze the AFF2 repeat that causes X-linked FRAXE intellectual disability syndrome when expanded. AFF2 is just one of >40 expansion genes analyzed by Variantyx tests.
- [List of Secondary Findings Genes](https://www.variantyx.com/resources/provider-resources/list-of-secondary-findings-genes/) - Information about optional secondary findings ACMG SF v3.3 The American College of Medical Genetics and Genomics (ACMG) recommends reviewing and reporting pathogenic and expected pathogenic variants in a list of 84 genes.1 They have recommended this list because the genes are related to conditions that are “actionable”, meaning that there are steps that can be
- [ACMG Secondary and Other Actionable (Incidental) Findings](https://www.variantyx.com/resources/provider-resources/secondary-findings/) - When a patient has broad genetic testing at Variantyx, such as an exome or genome analysis, we review data from the entire genome. Hundreds or thousands of genes are analyzed for a primary finding – variants that cause or contribute to a person’s symptoms. With data on so many other disease causing genes, patients can
- [Testing Customized for Your Institution](https://www.variantyx.com/resources/provider-resources/customized-testing/) - Learn about developing genetic tests outside of our portfolio that are specific for your institution and customized to the needs of your patient population.
- [FAQ](https://www.variantyx.com/resources/provider-resources/faq/) - Review our list of answers to questions frequently asked by providers.
- [How To Get Your Results](https://www.variantyx.com/resources/patient-resources/how-to-get-your-results/) - Learn about receiving and reviewing your test results with your provider.
- [Careers and Benefits](https://www.variantyx.com/company/careers-benefits/) - Join our interdisciplinary team of talented professionals advancing precision medicine, one patient at a time. Explore our open positions today!
- [Tissue Biopsy Specimen Requirements](https://www.variantyx.com/resources/provider-resources/specimen-requirements/tissue-biopsy-specimen-requirements/) - Tissue biopsy collection and shipping instructions.
- [Products of Conception Specimen Requirements](https://www.variantyx.com/resources/provider-resources/specimen-requirements/products-of-conception-specimen-requirements/) - Products of conception collection and shipping instructions.
- [IriSight® Comprehensive Analysis - Prenatal ](https://www.variantyx.com/products-services/reproductive-genetics/irisight-prenatal-analysis/) - IriSight® Comprehensive Analysis - Prenatal is a diagnostic test designed to identify genetic variants that correlate with clinical symptoms manifested in a fetus or a pregnancy, or that cause severe, early-onset genetic disorders.
- [IriSight® CNV Analysis](https://www.variantyx.com/products-services/reproductive-genetics/irisight️-cnv-analysis/) - IriSight® CNV Analysis is a diagnostic test designed to identify chromosomal abnormalities that correlate with clinical symptoms manifested in a fetus or a pregnancy, that may result in pregnancy loss or that cause severe, early-onset genetic disorders.
- [OncoAlly® Hereditary Hematologic Cancer Analysis](https://www.variantyx.com/products-services/precision-onco/hereditary-cancer/oncoally-hereditary-hematologic-cancer-analysis/) - OncoAlly® Hereditary Hematologic Cancer Analysis is a diagnostic test designed to identify genetic variants associated with hereditary hematologic cancers.
- [OncoAlly® Comprehensive Hereditary Cancer Analysis](https://www.variantyx.com/products-services/precision-onco/hereditary-cancer/comprehensive-hereditary-cancers/) - OncoAlly® Comprehensive Hereditary Cancer Analysis is a diagnostic test designed to identify genetic variants associated with hereditary cancer.
- [OncoAlly® Common Hereditary Cancer Analysis](https://www.variantyx.com/products-services/precision-onco/hereditary-cancer/common-hereditary-cancers/) - OncoAlly® Common Hereditary Cancer Analysis is a diagnostic test designed to identify genetic variants associated with hereditary cancer.
- [Saliva Specimen Requirements](https://www.variantyx.com/resources/provider-resources/specimen-requirements/saliva-specimen-requirements/) - Saliva collection and shipping instructions.
- [Contact Us](https://www.variantyx.com/company/contact-us/) - Contact Form with reCAPTCHA First Name Last Name Email Phone Zip Code I Am A Patient Healthcare Provider Company / Institution Area of Interest -- Please choose an option -- Rare Disorders Reproductive Oncology Wellness Your Message I consent to Variantyx terms and conditions Variantyx, Inc. 1671 Worcester Road, Suite 400Framingham, MA 01701 USA Phone:
- [Providers](https://www.variantyx.com/providers/) - Resources for your practice Billing Information We know cost is an important factor when considering genetic testing. Learn about our commitment to transparent pricing and billing options for patients. Forms Visit our Forms page for quick access to everything you’ll need for ordering testing, gaining access to raw sequencing data and sharing test results with
- [Genome Testing](https://www.variantyx.com/patients/rare-genetic-disorders/genome-testing/) - Genomic Unity® genome testing provides the most comprehensive genetic testing available.
- [Privacy Policy](https://www.variantyx.com/privacy-policy/) - What data we collect We collect personally identifiable information (PII) data that you actively provide to us. This includes contact information such as name and email address for marketing and company updates. Variantyx does not collect personally identifiable information about you when you visit our website unless you voluntarily provide us with that information. We
- [Patient Privacy Notice](https://www.variantyx.com/patient-data-privacy-policy/) - This Notice of Privacy Practices describes how Variantyx Inc. may use and disclose your protected health information (PHI) and how you can access this information.
- [FAQ](https://www.variantyx.com/resources/patient-resources/faq/) - Review our list of answers to questions frequently asked by patients.
- [Understanding Variantyx Reports](https://www.variantyx.com/resources/provider-resources/understanding-variantyx-reports/) - Variantyx diagnostic reports for rare disorders, reproductive genetics, hereditary cancer and other tests detail the genetic findings that fall within the parameters of the ordered test and correlate with the patient's clinical presentation. Learn about key sections by scrolling through the sample report below.
- [IriSight® Prenatal Testing](https://www.variantyx.com/providers/reproductive-health/) - With our IriSight® portfolio of whole genome based tests we provide high-complexity, comprehensive prenatal genetic testing.
- [Forms](https://www.variantyx.com/resources/provider-resources/order-forms/) - Review and download our testing forms and technical notes.
- [Billing](https://www.variantyx.com/resources/patient-resources/billing/) - Our goal is to make genetic testing affordable and accessible to everyone with a medical need by offering multiple billing options.
- [Specimen Requirements](https://www.variantyx.com/resources/provider-resources/specimen-requirements/) - Access technical information for accepted specimen types including blood, saliva, amniotic fluid, products of conception, biopsies and more.
- [Blood Specimen Requirements](https://www.variantyx.com/resources/provider-resources/specimen-requirements/blood-specimen-requirements/) - Blood collection and shipping instructions.
- [Company](https://www.variantyx.com/company/) - Variantyx is a technology-driven molecular diagnostics company offering innovative solutions in genetic disorders, reproductive health, and precision oncology markets.
- [Products & Services](https://www.variantyx.com/products-services/) - Explore Variantyx's comprehensive genomic testing services, including rare genetic disorders, reproductive genetics, precision oncology, and wellness testing.
- [Resources](https://www.variantyx.com/resources/) - Browse this section for access to explanatory and supporting materials as well as answers to frequently asked questions about our whole genome testing platform.
- [Genomic Unity® Exome Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/comprehensive-analyses/genomic-unity-exome-analysis/) - Genomic Unity® Exome Analysis is a diagnostic test designed to identify genetic variants that correlate with the patient’s phenotype.
- [Genomic Unity® Exome Plus Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/comprehensive-analyses/genomic-unity-exome-plus-analysis/) - Genomic Unity® Exome Plus Analysis is a diagnostic test designed to identify genetic variants that correlate with the patient’s phenotype.
- [Genomic Unity® Whole Genome Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/comprehensive-analyses/genomic-unity-whole-genome-analysis/) - Genomic Unity® Whole Genome Analysis is a diagnostic test designed to identify genetic variants that correlate with the patient’s phenotype.
- [Patient Resources](https://www.variantyx.com/resources/patient-resources/) - Learn about Variantyx testing process, billing options and more in the resources we’ve collected here.
- [Provider Resources](https://www.variantyx.com/resources/provider-resources/) - Access everything you need to know about Variantyx ordering options and how to bring the power of whole genome testing to your practice.
- [Company](https://www.variantyx.com/company/about-us/) - At Variantyx, we are transforming precision medicine through whole genome testing. Learn about who we are and what drives us.
- [Maternal Blood Specimen Requirements](https://www.variantyx.com/resources/provider-resources/specimen-requirements/maternal-blood-specimen-requirements/) - Maternal blood collection and shipping instructions.
- [Webinars](https://www.variantyx.com/resources/provider-resources/webinars/) - Unlocking an Ataxia Diagnosis: The Advantage of Whole Genome Sequencing Recorded on December 3, 2025, this presentation discusses how whole genome sequencing (WGS) is transforming ataxia diagnosis through comprehensive analysis of repeat expansions and other variant types … Watch the video Advanced Technologies in Prenatal Diagnosis: Closing the Diagnostic Gap with Genome Analysis Recorded on
- [Unlocking an Ataxia Diagnosis: The Advantage of Whole Genome Sequencing](https://www.variantyx.com/resources/provider-resources/unlocking-an-ataxia-diagnosis/) - In this talk, genomics expert Christine Stanley, PhD, FACMG discusses how whole genome sequencing (WGS) is transforming ataxia diagnosis.
- [Case Study: CHRND and HOXD13 Variants Provide Dual Congenital Myasthenic and Skeletal Abnormalities Diagnosis](https://www.variantyx.com/resources/case-studies/chrnd-and-hoxd13-variants-congenital-myasthenic-and-skeletal-abnormalities/) - Case Study: Dual diagnosis explains phenotypes in male fetus at 22 weeks gestation.
- [Jansen's Story](https://www.variantyx.com/jansen/) - View Jansen's case study
- [Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/comprehensive-analyses/genomic-unity-constitutional-genome-wide-copy-number-variant-analysis/) - Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis is a diagnostic test designed to identify chromosomal abnormalities that correlate with the patient's clinical symptoms.
- [Genomic Unity® Endocrinology Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/other-targeted-analyses/genomic-unity-endocrinology-analysis/) - Genomic Unity® Endocrinology Analysis is a diagnostic test designed to identify genetic variants that cause endocrine disorders.
- [Genomic Unity® Neuropathies Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/neurology-focused-targeted-analyses/genomic-unity-neuropathies-analysis/) - Genomic Unity® Neuropathies Analysis is a diagnostic test designed to identify genetic variants that cause neuropathy.
- [Genomic Unity® Neuromuscular Disorders Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/neurology-focused-targeted-analyses/genomic-unity-neuromuscular-disorders-analysis/) - Genomic Unity® Neuromuscular Disorders Analysis is a diagnostic test designed to identify genetic variants that cause neuromuscular disorders.
- [Genomic Unity® Muscular Dystrophy Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/neurology-focused-targeted-analyses/genomic-unity-muscular-dystrophy-analysis/) - Genomic Unity® Muscular Dystrophy Analysis is a diagnostic test designed to identify genetic variants that cause muscular dystrophies.
- [Genomic Unity® Motor Neuron Disorders Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/neurology-focused-targeted-analyses/genomic-unity-motor-neuron-disorders-analysis/) - Genomic Unity® Motor Neuron Disorders Analysis is a diagnostic test designed to identify genetic variants that cause motor neuron disorders.
- [Genomic Unity® X-linked Intellectual Disability Plus Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/neurology-focused-targeted-analyses/genomic-unity-x-linked-intellectual-disability-plus-analysis/) - Genomic Unity® X-linked Intellectual Disability Plus Analysis is a diagnostic test designed to identify genetic variants that cause isolated and complex (syndromic) neurodevelopmental delay and intellectual disability.
- [Genomic Unity® Comprehensive Mitochondrial Disorders Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/other-targeted-analyses/genomic-unity-comprehensive-mitochondrial-disorders-analysis/) - Genomic Unity® Comprehensive Mitochondrial Disorders Analysis is a diagnostic test designed to identify genetic variants that cause mitochondrial disorders.
- [Genomic Unity® Movement Disorders Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/neurology-focused-targeted-analyses/genomic-unity-movement-disorders-analysis/) - Genomic Unity® Movement Disorders Analysis is a diagnostic test designed to identify genetic variants that cause movement disorders.
- [Genomic Unity® Ataxia Repeat Expansion Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/neurology-focused-targeted-analyses/genomic-unity-ataxia-repeat-expansion-analysis/) - Genomic Unity® Ataxia Repeat Expansion Analysis is a diagnostic test designed to identify repeat expansion variants that cause ataxia, with or without other symptoms.
- [Genomic Unity® Comprehensive Ataxia Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/neurology-focused-targeted-analyses/genomic-unity-comprehensive-ataxia-analysis/) - Genomic Unity® Comprehensive Ataxia Analysis is a diagnostic test designed to identify genetic variants that cause ataxia, with or without other symptoms.
- [Genomic Unity® Epilepsy Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/neurology-focused-targeted-analyses/genomic-unity-epilepsy-analysis/) - Genomic Unity® Epilepsy Analysis is a diagnostic test designed to identify genetic variants that cause seizures, with or without other symptoms.
- [Genomic Unity® Custom Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/custom-analyses/) - Genomic Unity® Custom Analysis is a diagnostic test designed to identify genetic variants in a custom list of medically-relevant genes.
- [Genomic Unity® Cardiomyopathy and Arrhythmia Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/other-targeted-analyses/genomic-unity-cardiomyopathy-and-arrhythmia-analysis/) - Genomic Unity® Cardiomyopathy and Arrhythmia Analysis is a diagnostic test designed to identify genetic variants that cause cardiomyopathy and/or arrhythmia.
- [Genomic Unity® Nephrology Disorders Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/other-targeted-analyses/genomic-unity-renal-disorders/) - Genomic Unity® Nephrology Disorders Analysis is a diagnostic test designed to identify genetic variants that cause nephrology disorders.
- [Genomic Unity® Retinal Disorders Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/other-targeted-analyses/genomic-unity-retinal-disease-analysis/) - Genomic Unity® Retinal Disorders Analysis is a diagnostic test designed to identify genetic variants that cause retinal disorders.
- [Gene List and Associated Cancer Type](https://www.variantyx.com/gene-cancer-associations/) - Browse gene-cancer associations by test type: OncoAlly® Hereditary Cancer Analyses OncoAlly® Hereditary Hematologic Cancer Analysis Genomic Unity® Pediatric Hematologic Disorders Analysis OncoAlly® Hereditary Cancer Analyses Abbreviations ALL: Acute lymphoblastic leukemia, AML: Acute myeloid leukemia, B-ALL: B-cell acute lymphocytic leukemia, BCC: Basal cell carcinoma, CLL: Chronic lymphocytic leukemia, CMML: Chronic myelomonocytic leukemia, GIST: Gastrointestinal stromal tumor,
- [OncoAlly® Hereditary Cancer Analyses](https://www.variantyx.com/products-services/precision-onco/hereditary-cancer/) - Leverage our whole genome platform with targeted tests that focus on a subset of genes associated with specific hereditary cancers.
- [Precision Oncology](https://www.variantyx.com/products-services/precision-onco/) - At Variantyx we provide hereditary cancer panels using whole genome data analyzed with our powerful Genomic Intelligence® platform.
- [Sequencing Technology Comparison](https://www.variantyx.com/providers/the-variantyx-difference/long-read-whole-genome-sequencing/sequencing-technology-comparison/) - Explore differences in variant detection capabilities by sequencing technology, including exome and short and long-read genome.
- [The Variantyx Difference](https://www.variantyx.com/providers/the-variantyx-difference/) - With cutting-edge technology and stellar services, we streamline high-complexity genomic testing for smooth integration of precision medicine into your existing practice.
- [Mission & Values](https://www.variantyx.com/company/our-values/) - At Variantyx, we are pioneering new generations of genomic tests to advance precision medicine, improve disease diagnosis, and inform personalized treatment.
- [Case Study: MYH3 and F11 Variants Provide Prenatal Arthrogryposis and Factor 11 Deficiency Diagnoses](https://www.variantyx.com/resources/case-studies/myh3-f11-variants-arthrogryposis-factor-11-deficiency/) - Case Study: Combination of MYH3 SNV and F11 deletion impacts diagnosis and postnatal surgical management in a fetus at 14 weeks gestation.
- [Case Study: COL11A1 and TBC1D8B Variants Provide Prenatal Marshall Syndrome and Nephrotic Syndrome Diagnoses](https://www.variantyx.com/resources/case-studies/col11a1-tbc1d8b-variants-marshall-syndrome-and-nephrotic-syndrome/) - Case Study: COL11A1 splicing variant and TBC1D8B two-exon deletion provide a comprehensive diagnostic picture in a fetus at 22 weeks gestation.
- [Case Study: DOK7 Variants Provide DOK7-Related Disorders Diagnosis](https://www.variantyx.com/resources/case-studies/dok7-variants-dok7-related-disorders/) - Case Study: Partial DOK7 deletion plus small indel explains multiple fetal anomalies in female fetus.
- [Case Study: FAT4 Variants Provide FAT4-Related Disorders Diagnosis](https://www.variantyx.com/resources/case-studies/fat4-variants-fat4-related-disorders/) - Case Study: Compound heterozygous deletion plus SNV explains multiple fetal anomalies in male fetus.
- [Case Study: RBM8A Variants Provide TAR Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/rbm8a-3utr-tar-syndrome/) - Case Study: Elusive RBM8A 3’-UTR variant explains TAR syndrome features in female fetus.
- [Case Study: KIAA0753 Variants Provide Prenatal Short-Rib Thoracic Dysplasia 21 Diagnosis](https://www.variantyx.com/resources/case-studies/kiaa0753-variants-short-rib-thoracic-dysplasia-21/) - Case Study: Compound heterozygous SNV and multi-exon KIAA0753 deletion explain skeletal dysplasia ultrasound findings in a fetus at 21 weeks gestation.
- [Variantyx Testing - Supplementary Information](https://www.variantyx.com/resources/patient-resources/variantyx-testing-supplementary-information/) - Please read the following information carefully and discuss with your healthcare provider or a genetic counselor before signing the informed consent.
- [IriSight® CNV Analysis - Supplementary Information](https://www.variantyx.com/resources/patient-resources/variantyx-testing-supplementary-information/irisight-cnv-analysis/) - Please read the following information carefully and discuss with your healthcare provider or a genetic counselor before signing the informed consent.
- [Genomic Unity® Genome-Wide CNV and FMR1 Analysis - Supplementary Information](https://www.variantyx.com/resources/patient-resources/variantyx-testing-supplementary-information/genomic-unity-genome-wide-cnv-and-fmr1-analysis/) - Please read the following information carefully and discuss with your healthcare provider or a genetic counselor before signing the informed consent.
- [Genomic Unity® Whole Genome Analysis - Supplementary Information](https://www.variantyx.com/resources/patient-resources/variantyx-testing-supplementary-information/genomic-unity-whole-genome-analysis/) - Please read the following information carefully and discuss with your healthcare provider or a genetic counselor before signing the informed consent.
- [Advanced Technologies in Prenatal Diagnosis: Closing the Diagnostic Gap with Genome Analysis](https://www.variantyx.com/resources/provider-resources/advanced-technologies-in-prenatal-diagnosis-closing-the-diagnostic-gap-with-genome-analysis/) - In this presentation, we highlight the clinical utility of prenatal genome testing, show technical advantages, and examine implications for patient counseling.
- [First-Line Genomes: The (New) Standard of Care](https://www.variantyx.com/resources/provider-resources/first-line-genomes-the-new-standard-of-care/) - In this talk, genomics expert Christine Stanley, PhD, FACMG explores the societal recommendations and justifications for WGS as a first-line diagnostic tool.
- [Genomic Unity® Pediatric Hematologic Disorders Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/other-targeted-analyses/genomic-unity-pediatric-hematologic-disorders-analysis/) - Genomic Unity® Pediatric Hematologic Disorders Analysis is a diagnostic test designed to identify genetic variants associated with hereditary hematologic cancers, bone marrow failure, and immunodeficiency disorders.
- [Case Study: DOK7 Deletion Provides Prenatal DOK7-Related Disorders Diagnosis](https://www.variantyx.com/resources/case-studies/dok7-deletion-dok7-related-disorders/) - Case Study: Single exon DOK7 deletion explains arthrogryposis multiplex congenita in a fetus at 22 weeks gestation.
- [Case Study: RNU4ATAC Variants Provide RNU4ATAC-Related Developmental Disorders Diagnosis](https://www.variantyx.com/resources/case-studies/rnu4atac-variants-rnu4atac-related-developmental-disorders/) - Case Study: Compound heterozygous SNVs in an sncRNA explain multiple anomalies in a fetus at 17 weeks gestation.
- [The Future is Here: How Genomes are Revolutionizing Genetic Testing](https://www.variantyx.com/resources/provider-resources/the-future-is-here-how-genomes-are-revolutionizing-genetic-testing/) - Listen in as Christine Stanley, PhD, FACMG, highlights the advantages of WGS vs. WES, what types of variants WGS can detect, and why clinicians should consider WGS for their patients.
- [Unraveling Complex Ataxia Cases Through Whole Genome Sequencing](https://www.variantyx.com/resources/provider-resources/unraveling-complex-ataxia-cases-through-whole-genome-sequencing/) - Listen in as Christine Stanley, PhD, FACMG, discusses how genome testing differs from panel and exome testing for ataxia patients.
- [Benefits of a Whole Genome Platform for Diagnostics in Prenatal, Pediatrics, and Beyond](https://www.variantyx.com/resources/provider-resources/benefits-of-a-whole-genome-platform-for-diagnostics-in-prenatal-pediatrics-and-beyond/) - Presented May 12, 2023 by Christine Stanley PhD, FACMG
- [Rare Genetic Disorders](https://www.variantyx.com/providers/rare-genetic-disorders/) - At Variantyx, our whole genome based testing provides unmatched diagnostic capabilities for complex and rare disorders.
- [Patients](https://www.variantyx.com/patients/) - Find your answer through genetic testing with Variantyx These are the steps: You’ll find answers to many of your questions here, but if you have others please ask us via the Contact Us page. Resources for your testing journey Billing Information We know cost is an important factor when considering genetic testing. Learn about our
- [Billing](https://www.variantyx.com/resources/provider-resources/billing/) - Learn about the different ways your patients or institution can pay for Variantyx testing.
- [Saliva Sample Collection Instructions](https://www.variantyx.com/saliva-collection-instructions/) - Follow Variantyx's detailed instructions for collecting saliva samples using our Spit, Swab, or Assisted Swab kits. Ensure accurate genetic testing with proper labeling and shipping.
- [Site Map](https://www.variantyx.com/site-map/) - View Variantyx’s full sitemap to quickly explore their comprehensive genetic testing services, resources, company information and support tools in one navigable directory.
- [Skin Biopsy Specimen Requirements](https://www.variantyx.com/resources/provider-resources/specimen-requirements/skin-biopsy-specimen-requirements/) - Skin biopsy collection and shipping instructions.
- [Genomic Unity® Pharmacogenomics Analysis](https://www.variantyx.com/products-services/genomic-unity-pharmacogenomics/) - Test Description Genomic Unity® Pharmacogenomics Analysis uses a whole genome platform that analyzes common variants associated with drug metabolism and pharmacogenetics response in 13 genes. Pharmacogenetic analysis can benefit the treatment of psychiatric, hematological, neurological, and cardiometabolic disorders, as well as pain management, infections, and cancers. The Genomic Unity® Pharmacogenomics Analysis is based on the
- [We See More in Mitochondrial Disorders](https://www.variantyx.com/providers/the-variantyx-difference/we-see-more-in-mitochondrial-disease/) - All genetic tests for mitochondrial disorders are not equal. With our whole genome platform we see more. More variants, with greater resolution, all with one sample.
- [Case Study: RIPK4 Deletion Provides Bartsocas-Papas Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/ripk4-deletion-bartsocas-papas-syndrome/) - Case Study: Single exon deletion explains multiple congenital anomalies in male fetus.
- [Case Study: KMT2D Indel Provides Kabuki Syndrome Diagnosis](https://www.variantyx.com/resources/case-studies/kmt2d-indel-kabuki-syndrome/) - Case Study: De novo KMT2D indel explains hypoplastic left heart in male fetus.
- [Case Study: PIEZO1 SNVs Provide Lymphatic Malformation Type 6 Diagnosis](https://www.variantyx.com/resources/case-studies/piezo1-snvs-lymphatic-malformation-type-6/) - Case Study: Compound heterozygous sequence variants explain hydrops fetalis in second pregnancy loss.
- [gDNA Specimen Requirements](https://www.variantyx.com/resources/provider-resources/specimen-requirements/gdna-specimen-requirements/) - DNA extracted from the following sources is accepted: whole blood, saliva, fresh and frozen tissue, bone marrow.
- [Chorionic Villus Sampling Specimen Requirements](https://www.variantyx.com/resources/provider-resources/specimen-requirements/chorionic-villus-sampling-specimen-requirements/) - Chorionic villus sampling collection and shipping instructions.
- [Specified Variant Analysis](https://www.variantyx.com/providers/rare-genetic-disorders/familial-variant-analysis/) - When genetic testing identifies variant(s) in a patient, follow on specified variant testing may be desirable. We offer three types, differing by variant type.
- [Precision Oncology](https://www.variantyx.com/providers/precision-oncology/) - OncoAlly® testing brings clarity and direction to the complexity of treating and managing solid tumors thanks to comprehensive genomic profiling.
- [Request a Consultation](https://www.variantyx.com/providers/request-a-consultation/) - Connect with a Clinical Specialist to find out how easy it is to bring the power of whole genome sequencing into your practice.
- [Genomic Unity® Mitochondrial Genome Sequence Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/other-targeted-analyses/mitochondrial-genome-sequence-analysis/) - Genomic Unity® Mitochondrial Genome Sequence Analysis is a diagnostic test designed to identify mitochondrial variants that cause mitochondrial disorders.
- [Contact Us - Patient](https://www.variantyx.com/patients/contact-us-patient/) - You've got questions, we've got answers. Let's talk about Variantyx testing.
- [Contact Us - Provider](https://www.variantyx.com/providers/contact-us-provider/) - You've got questions, we've got answers. Let's talk about Variantyx testing.
- [Publications](https://www.variantyx.com/resources/publications/) - At Variantyx, we are constantly pushing the boundaries of genomic technology in order to provide better diagnoses for patients. Review our many publications.
- [Patient payment](https://www.variantyx.com/payment/) - Pay your bill
- [Connect With Us](https://www.variantyx.com/connect-with-us/) - A whole genome platform with intelligent analysis technology Our PCR-free, whole genome sequencing platform provides high-quality data for in-depth analyses for rare genetic disorders, reproductive genetics, precision oncology, and wellness testing. Using a single sample, our analysis platforms can accurately detect all major variants – small to large, simple or complex – that cause symptoms
- [Wellness Testing](https://www.variantyx.com/products-services/wellness-testing/) - At Variantyx, our Genomic Inform® wellness test provides comprehensive information about genetic risks across multiple health areas.
- [Reproductive Genetics](https://www.variantyx.com/products-services/reproductive-genetics/) - Transforming reproductive genetics through whole genome analysis, we provide comprehensive diagnostic testing for prenatal analysis and pregnancy loss.
- [Neurology Analyses](https://www.variantyx.com/products-services/rare-disorder-genetics/neurology-focused-targeted-analyses/) - At Variantyx we provide neurology panels using whole genome data analyzed with our powerful Genomic Intelligence® platform.
- [Rare Genetic Disorders](https://www.variantyx.com/products-services/rare-disorder-genetics/) - At Variantyx, our whole genome based testing platform provided unmatched diagnostic capabilities for complex and rare disorders.
- [Wellness Testing](https://www.variantyx.com/providers/wellness-testing/) - At Variantyx, our whole genome based testing provides unmatched capabilities for preventative genetic screening of health adults.
- [Wellness Testing](https://www.variantyx.com/patients/wellness-proactive-health/) - At Variantyx, our whole genome based testing provides unmatched capabilities for preventative genetic screening of health adults.
- [Tell Us Your Story](https://www.variantyx.com/patients/tell-us-your-story/) - We're always interested to hear how our testing has made a difference to the people we serve - please share your story with us.
- [IriSight® Prenatal Testing](https://www.variantyx.com/patients/pregnancy/) - With our IriSight® portfolio of genomic tests we provide high-complexity, comprehensive prenatal genetic testing.
- [Rare Genetic Disorders](https://www.variantyx.com/patients/rare-genetic-disorders/) - At Variantyx, our whole genome based testing provides unmatched diagnostic capabilities for complex and rare disorders.
- [The Variantyx Difference](https://www.variantyx.com/patients/the-variantyx-difference/) - At Variantyx, we streamline high-complexity genomic testing for smooth integration of precision medicine into your existing practice.
- [Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/other-targeted-analyses/nuclear-encoded-mitochondrial-gene-analysis/) - Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis is a diagnostic test designed to identify nuclear variants that cause mitochondrial disorders.
- [Genomic Unity® Mitochondrial Genome Deletions Analysis](https://www.variantyx.com/mitochondrial-deletions-analysis/) - Genomic Unity® Mitochondrial Deletions Analysis is a diagnostic test designed to identify large mitochondrial deletions that cause mitochondrial disorders.
- [Genomic Unity® Genome-Wide CNV and FMR1 Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/neurology-focused-targeted-analyses/genomic-unity-genome-wide-cnv-and-fmr1-analysis/) - Genomic Unity® Genome-Wide CNV and FMR1 Analysis is a diagnostic test designed to identify genetic variants that cause developmental delays, intellectual disability and autism spectrum disorders.
- [Genomic Unity® DMD Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/neurology-focused-targeted-analyses/genomic-unity-dmd-gene-analysis/) - Genomic Unity® DMD Analysis is a diagnostic test designed to identify genetic variants that cause Duchenne and Becker muscular dystrophies.
- [Genomic Unity® Hearing Loss Disorders Analysis](https://www.variantyx.com/products-services/rare-disorder-genetics/other-targeted-analyses/genomic-unity-hearing-loss-disorders-analysis/) - Genomic Unity® Hearing Loss Disorders Analysis is a diagnostic test designed to identify genetic variants that cause hearing loss.
- [Comprehensive Diagnostic Prenatal Testing with IriSight®](https://www.variantyx.com/patients/pregnancy/comprehensive-prenatal-testing/) - When amniocentesis is recommended, our IriSight® portfolio of diagnostic, genome-based tests provide a complete picture of your baby’s DNA.
- [IriSight® Prenatal Genetic Testing](https://www.variantyx.com/patients/pregnancy/irisight-prenatal-genetic-testing/) - Ask your doctor about IriSight®
- [Sample Submission Reproductive Genetics](https://www.variantyx.com/resources/provider-resources/sample-submission-reproductive-genetics/) - See instructions for submitting reproductive samples collected with your own materials.
- [CMT Genetic Testing with Genomic Unity®](https://www.variantyx.com/patients/rare-genetic-disorders/cmt-genetic-testing-with-genomic-unity/) - Genomic Unity® provides the most comprehensive genetic testing available for Charcot-Marie-Tooth (CMT) and other neuropathy disorders.
- [Mitochondrial Disorders Genetic Testing with Genomic Unity®](https://www.variantyx.com/patients/rare-genetic-disorders/mitochondrial-disorders-genetic-testing-with-genomic-unity/) - Genomic Unity® provides the most comprehensive genetic testing available for mitochondrial disorders.
- [Cultured Cells Specimen Requirements](https://www.variantyx.com/resources/provider-resources/specimen-requirements/cultured-cells-specimen-requirements/) - Cultured cells collection and shipping instructions.
- [Amniotic Fluid Specimen Requirements](https://www.variantyx.com/resources/provider-resources/specimen-requirements/amniotic-fluid-specimen-requirements/) - Amniotic fluid collection and shipping instructions.
- [Working Together](https://www.variantyx.com/resources/provider-resources/working-together/) - Collaboration is key Healthcare is increasingly reliant on teamwork. Our process prioritizes cooperation and connection with clinics and providers. Because providing the best care to your patients requires the best information, our Clinical Field Specialists and Clinical Coordination teams work to ensure a smooth testing experience, through every step of the process: Our testing portfolio
- [How to Collect and Send a Sample](https://www.variantyx.com/resources/patient-resources/how-to-send-a-sample-how-to-information/) - Review our sample collection and return processes.
- [Patient Advocacy Resources](https://www.variantyx.com/resources/patient-resources/patient-advocacy-resources/) - Genetic Counseling Services Your provider may recommend genetic counseling at some point during the testing process. Genetic counselors can help explain complex testing results or answer questions, big or small. Below are some general resources on genetic counseling services: National Society of Genetic Counselors The National Society of Genetic Counselors can help you find local
- [Doctor Discussion Guides](https://www.variantyx.com/resources/patient-resources/doctor-discussion-guides/) - Download our doctor discussion guides to start a conversation about Variantyx testing with your provider.
- [Prenatal Testing Comparison](https://www.variantyx.com/patients/pregnancy/comprehensive-prenatal-testing/prenatal-testing-comparison/) - IriSight® CNV Analysis IriSight® CNV Analysis is a genetic test performed during pregnancy to look for chromosomal conditions in a fetus. It is similar to NIPT/NIPS (NonInvasive Prenatal Testing, NonInvasive Prenatal Screening) and chromosomal microarray (CMA) tests, but there are important differences. First, NIPT is predictive - it can only suggest that a fetus is
- [Ask Us About IriSight® Prenatal Testing](https://www.variantyx.com/providers/reproductive-health/ask-us-about-irisight/) - You've got questions, we've got answers. Let's talk about IriSight® testing.
- [Ask Us About IriSight® Prenatal Testing](https://www.variantyx.com/patients/pregnancy/ask-us-about-irisight/) - You've got questions, we've got answers. Let's talk about IriSight® testing.
- [Thank You](https://www.variantyx.com/thank-you/) - Thanks for contacting us! We will get in touch with you shortly.
- [Request a Provider Portal Account](https://www.variantyx.com/providers/request-a-variantyx-portal-account/) - If you are a healthcare provider, please use your institutional email address and the form below to request a Provider Portal account.
- [Clinical Terms & Conditions](https://www.variantyx.com/clinical-terms-conditions/) - STANDARD TERMS The Customer (“Customer”) and Variantyx Inc. incorporated under the laws of Delaware US, with principal place of business in 1671 Worcester Rd. Framingham MA 01701, NPI #, 1629512140 (“Variantyx”) have prepared a quote or similar document that describes pricing and technical terms for Variantyx’s products and services (the “Purchase Order”). The Purchase Order
- [Expanded Report](https://www.variantyx.com/resources/provider-resources/expanded-report/) - What's included The expanded report will include additional variants of unknown clinical significance that appear to have a weak clinical correlation to the patient's reported phenotype, or pathogenic and likely pathogenic variants that have no apparent correlation to the patient’s reported phenotype An expanded report is optional when ordering: Genomic Unity® Whole Genome AnalysisGenomic Unity®
- [Terms of Use](https://www.variantyx.com/terms-of-use/) - Copyright This Website and its contents is copyright protected. Any use of the information or data therein requires prior written consent of Variantytx. Genomic Intelligence®, Genomic Unity® and Genomic Inform® are registered trademarks of Variantyx. Any quotes or excerpts from published content are permitted for private or non-commercial use subject to reference to the source. Disclaimer The
- [Other Targeted Analyses](https://www.variantyx.com/products-services/rare-disorder-genetics/other-targeted-analyses/) - Targeted panels using whole genome data analyzed with our powerful Genomic Intelligence® platform.
- [How to Collect a Saliva Sample](https://www.variantyx.com/resources/patient-resources/how-to-send-a-sample-how-to-information/how-to-collect-a-saliva-sample/) - Your saliva sample kit contains written instructions for how to collect saliva by spitting into the provided collection tube.
- [How to Collect an Assisted Saliva Sample](https://www.variantyx.com/resources/patient-resources/how-to-send-a-sample-how-to-information/how-to-collect-an-assisted-saliva-sample/) - Your assisted saliva sample kit contains written instructions for how to collect saliva from an individual using the provided swab.
- [How to Collect a Saliva Swab Sample](https://www.variantyx.com/resources/patient-resources/how-to-send-a-sample-how-to-information/how-to-collect-a-saliva-swab-sample/) - Your saliva swab sample kit contains written instructions for how to collect saliva from yourself using the provided swab. Watch the video below for a demonstration. Please note that samples without labels or signed informed consent will not be processed. Before shipping, please check that: Samples are labeled with the name and date of birth
- [APOE Status](https://www.variantyx.com/apoestatus/) - Certain APOE genotypes have been associated with an increased risk of developing late-onset Alzheimer disease (AD). The APOE gene has three major allelic variants (ε2, ε3, and ε4). Only the ε4 allele, which has been shown in functional studies to alter the function of the APOE protein1-5, has been linked to AD. Late-onset AD (age
- [IriSight® Comprehensive Analysis - Pregnancy Loss](https://www.variantyx.com/products-services/reproductive-genetics/irisight-for-pregnancy-loss/) - Test Description IriSight® Comprehensive Analysis - Pregnancy Loss is a comprehensive test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. It is a trio-based test that analyzes tissue from a fetal loss jointly with parental DNA. IriSight® Comprehensive Analysis - Pregnancy Loss provides a single,
- [Comprehensive Analyses](https://www.variantyx.com/products-services/rare-disorder-genetics/comprehensive-analyses/) - A whole genome platform that diagnoses genetic conditions in thousands of genes across the health spectrum.
- [Lab Services](https://www.variantyx.com/products-services/lab-services/) - Your lab’s solutions, powered by our tested pipeline The Variantyx Genomic Intelligence® platform is an ideal end-to-end bioinformatic solution for laboratories seeking a clinically validated interpretation solution to expand or improve current test offerings. Genomic Intelligence® processes germline NGS data in a sequencer-agnostic manner to provide comprehensive clinical reports for a wide range of germline
- [Variantyx at NSGC 2022](https://www.variantyx.com/variantyx-nsgc22/) - The Benefits of a Whole Genome Platform for Diagnostics in Prenatal, Pediatrics, and Beyond Presented by:Dr. Christine Stanley Chief Director of Clinical Genomics at Variantyx After watching the video, please complete the evaluation below to collect CEUs Go to Evaluation
- [IriSight™️ Prenatal Analysis](https://www.variantyx.com/irisight/) - Test Code - RPG001 Test Description IrisightTM Prenatal Analysis is a clinical diagnostic test designed to identify genetic variants that correlate with clinical symptoms manifested in a fetus or a pregnancy, or that lead to severe, early-onset genetic disorders. When to Order Order this test when amniocentesis has been determined to be medically necessary due
- [Pharma Services](https://www.variantyx.com/products-services/pharma-services/) - Successful drugs of the future will be built on a bedrock of strong data We distill complex biology into actionable data for ongoing drug development. With our dynamic combination of whole genome sequencing (WGS) and in-house bioinformatics tools and expertise, we take a holistic approach to patient stratification and biomarker analyses. Over the past 20
- [Glossary](https://www.variantyx.com/glossary/) - ACMG - The American College of Medical Genetics and Genomics Adequately sequenced – A base in the genome that has sufficient data (8 “reads” or more) to detect a genetic variant. Alternate variant – A genetic variant that differs from the sequence in the reference genome. Sometimes also referred to as the heterozygous alternate variant.
- [News](https://www.variantyx.com/company/news-events/news/) - Latest news from Variantyx
- [Events & Conferences](https://www.variantyx.com/company/news-events/events-conferences/) - Educational conferences Variantyx participates in educational conferences across the U.S. both in-person and virtually. Learn more about upcoming conferences below and Contact Us directly if you are interested in connecting with us about a presentation or sponsorship opportunity.
- [News & Events](https://www.variantyx.com/company/news-events/) - Stay up to date with the latest news about Variantyx

## Jobs

- [Clinical Genomic Variant Scientist](https://www.variantyx.com/company/careers-benefits/clinical-genomic-variant-scientist-3/) - About Variantyx: Variantyx is an award-winning, technology-driven molecular diagnostics lab that offers innovative solutions in the genetic disorders, reproductive health, and precision oncology markets. Our proprietary whole genome analysis platform provides unparalleled diagnostic capabilities, enhances personalized treatment recommendations, shortens the time to diagnosis, and reduces healthcare costs. About the Position: As a Clinical Variant Scientist,
- [Software Engineer / Senior Software Engineer, Product/Platform](https://www.variantyx.com/company/careers-benefits/software-engineer-senior-software-engineer-product-platform/) - About Variantyx: Join our rapidly growing, engineering-driven organization and help build the software that powers the future of whole-genome diagnostics. Backed by leading life sciences investors, we have achieved industry-leading diagnostic yield and unit economics through a fully vertically integrated pipeline that spans from sample to report. At the core of our success is a
- [Senior Software Engineer, Bioinformatics](https://www.variantyx.com/company/careers-benefits/senior-software-engineer-bioinformatics/) - About Variantyx: Join our rapidly growing, engineering-driven organization and help build the software that powers the future of whole-genome diagnostics. Backed by leading life sciences investors, we have achieved industry-leading diagnostic yield and unit economics through a fully vertically integrated pipeline that spans from sample to report. At the core of our success is a
- [Clinical NGS Laboratory Technician](https://www.variantyx.com/company/careers-benefits/clinical-ngs-laboratory-technician-2/) - About Variantyx: Variantyx is an award-winning, technology-driven molecular diagnostics lab that offers innovative solutions in the genetic disorders, reproductive health, and precision oncology markets. Our proprietary whole genome analysis platform provides unparalleled diagnostic capabilities, enhances personalized treatment recommendations, shortens the time to diagnosis, and reduces healthcare costs. About the Position: The Clinical NGS Laboratory Technician
- [Controller](https://www.variantyx.com/company/careers-benefits/corporate-controller/) - About Variantyx: Variantyx is an award-winning, technology-driven molecular diagnostics lab that offers innovative solutions in the genetic disorders, reproductive health, and precision oncology markets. Our proprietary whole genome analysis platform provides unparalleled diagnostic capabilities, enhances personalized treatment recommendations, shortens the time to diagnosis, and reduces healthcare costs. About the Position: We are seeking a dynamic

## News

- [Variantyx Surpasses 2,500 Genomes Analyzed, Highlights the Value of Its WGS-Based Testing Methodology](https://www.variantyx.com/company/news-events/news/variantyx-surpasses-2500-genomes-analyzed-highlights-the-value-of-its-wgs-based-testing-methodology/) - January 12, 2021 Clinicians at Variantyx, a leader in high complexity hereditary disease testing, recently completed analysis of their 2,500th patient genome. The milestone highlights the growing need for whole genome sequencing (WGS)-based tests in patient genetic diagnostics. Variantyx’s Genomic Unity® tests pair the patient’s complete DNA sequence with proprietary data analysis algorithms and phenotype-driven filters to
- [Ethics in Whole Genome Sequencing](https://www.variantyx.com/company/news-events/news/ethics-in-whole-genome-sequencing/) - By Toni Lewis The use of whole-genome sequencing (WGS) in diagnostic testing brings up the topic of secondary findings or incidental findingsfor many clinicians. Secondary findings are variants associatedwith a condition other than the one for which the patient is tested.For instance, if a newborn baby has a suspected illness detectedon prenatal ultrasound and the
- [Whole-genome sequencing and health insurance](https://www.variantyx.com/company/news-events/news/whole-genome-sequencing-and-health-insurance/) - By Daryl Spinner, PhD, MBA In the realm of genetic testing, insurance payers have been reluctant to recognize that there is a method of testing that gives physicians over 99% of the information that they need to solve current or even future medical puzzles related to genetics. When evaluating insurance policies, it’s important to know
- [Variantyx Secures $20M in Funding for Whole Genome Sequencing Methodology, Advanced Testing Method that Diagnoses Genetic Disorders](https://www.variantyx.com/company/news-events/news/variantyx-secures-20m-in-funding-for-whole-genome-sequencing-methodology-advanced-testing-method-that-diagnoses-genetic-disorders/) - March 15, 2021 Variantyx, a leader in high complexity hereditary disease testing, today announced that they secured $20M in funding for their Whole Genome Sequencing (WGS)-based testing methodology, an advanced genetic testing method currently used to diagnose rare inherited and neurological disorders. The series C funding round was led by GHS Fund (Quark Venture LP
- [Variantyx Licenses IBM Technologies That Leverage AI for Somatic Analysis](https://www.variantyx.com/company/news-events/news/variantyx-licenses-ibm-technologies-that-leverage-ai-for-somatic-analysis/) - December 22, 2020 Variantyx, the leader in high complexity hereditary disease testing, today announced that it has entered into a licensing agreement with IBM for technologies that leverage artificial intelligence for somatic analysis from which Variantyx intends to develop comprehensive tumor diagnostic solutions. “Variantyx’s proprietary whole genome sequencing (WGS)-based methodology has transformed genetic testing and
- [Variantyx Launches Its WGS-Based Prenatal Test for High-Risk Pregnancies, Enters Women’s Health Market](https://www.variantyx.com/company/news-events/news/variantyx-launches-its-wgs-based-prenatal-test-for-high-risk-pregnancies-enters-womens-health-market/) - January 26, 2021 Variantyx, a leader in high complexity hereditary disease testing, announced today that it will launch its Genomic Unity® Prenatal Analysis test at the Society for Maternal Fetal Medicine’s 41st Annual Pregnancy Meeting being held virtually January 25-30. Its Genomic Unity® tests have been instrumental in resolving many complex patient cases. Variantyx pairs the patient’s complete DNA

## Events

- [Presentation at the Canaccord Genuity Virtual MedTech and Diagnostics and Digital Health & Services Forum](https://www.variantyx.com/company/news-events/events/presentation-at-the-canaccord-genuity-virtual-medtech-and-diagnostics-and-digital-health-services-forum/) - Join Variantyx for a presentation at the Canaccord Genuity Virtual MedTech and Diagnostics and Digital Health & Services Forum: https://wsw.com/webcast/canaccord82/varian/2853480
- [Annual Ataxia Conference](https://www.variantyx.com/company/news-events/events/annual-ataxia-conference/) - March 10th - 13th 2022
- [SMFM’s 41st Annual Pregnancy Meeting](https://www.variantyx.com/company/news-events/events/smfms-41st-annual-pregnancy-meeting/) - Join us at this year’s virtual meeting. The exhibit floor will be open throughout the entire event which runs January 25 – 30. We hope you’ll stop by Booth #3 to downloadable materials to your swag bag or take time to watch a short intro video. If you have any questions, we’re just a virtual minute
- [Carrell Krusen Neuromuscular Virtual Symposium](https://www.variantyx.com/company/news-events/events/carrell-krusen-neuromuscular-virtual-symposium/) - Join us at this year’s virtual meeting hosted by University of Texas Southwestern Medical Center. The exhibit floor will be open throughout the entire event which runs February 18 – 19. Stop by to meet live (via Google Hangouts) with our local clinical sales specialist and clinical science liaison. See you there!

## Team

- [David Margulies, MD](https://www.variantyx.com/company/team/leadership/david-margulies-md/) - Dr Margulies has been active in the healthtech industry since the early 1980s. He co-founded and led BRS Medical, later acquired by WB Saunders and, ultimately, Elsevier North Holland. While CIO at Boston Children’s Hospital, he led the design of software that was acquired by Cerner to be the basis of Cerner’s EMR, becoming EVP,
- [Shirel Weiss, PhD](https://www.variantyx.com/company/team/leadership/shirel-weiss-phd/) - Shirel serves as Vice President, Marketing utilizing her expertise in genomic diagnostics marketing, product management and variant interpretation to grow awareness and demand for Variantyx's products and services. She holds a Bachelor's degree in Life Science and Master's degree in Biochemistry from Bar-Ilan University as well as a PhD in Molecular Genetics from Tel Aviv
- [Benjamin Lund](https://www.variantyx.com/company/team/leadership/benjamin-lund/) - Partner at Soleus Capital Ben is a Partner at Soleus Capital, an investment firm based in Greenwich, CT dedicated to investing in life sciences companies across the capital structure. Prior to Soleus Capital, Ben was the EVP of Corporate Development and Strategy at Launch Therapeutics, a partnership between Abingworth and Carlyle focused on providing structured
- [Karimah Es Sabar](https://www.variantyx.com/company/team/leadership/karimah-es-sabar/) - CEO and General Partner at Quark Venture LP Since 2016 Karimah has been the CEO and General Partner at Quark Venture LP, a venture capital investment firm, leading their global health sciences enterprise. Prior to Quark Venture, she was President and CEO at the Centre for Drug Research and Development (CDRD), Canada’s national drug development
- [Mark Jelley](https://www.variantyx.com/company/team/leadership/mark-jelley/) - Partner at OrbiMed Mark is a Partner on the Credit and Royalty team at OrbiMed, focused on structured finance and royalty investments across healthcare sectors. Prior to joining OrbiMed, he was an Associate in investment banking at UBS, focused on leveraged finance transactions. Before UBS, Mark was an analyst at Macquarie Capital, focused on principal
- [Gideon Argov, MBA](https://www.variantyx.com/company/team/leadership/gideon-argov-mba/) - Managing Partner and Co-Founder at New Era Gideon is a Managing Partner at New Era Capital Partners, the global investment firm he co-founded in 2017. He is also an Advisory Director of Berkshire Partners, an investment firm based in Boston. Prior to New Era, Gideon was President and CEO of Entegris, Managing Director of Parthenon
- [Tom DeLuca](https://www.variantyx.com/company/team/leadership/tom-deluca/) - Tom DeLuca serves as our Chief Human Resources Officer. Tom’s primary focus is to lead HR operations and oversee efforts surrounding organizational planning, DE&I, culture and engagement, recruitment, and learning as Variantyx grows. Prior to his time at Variantyx, Tom led the national sales and health plans organizations HR team for Quest Diagnostics, worked as
- [Hillel Bachrach, MBA](https://www.variantyx.com/company/team/leadership/hillel-bachrach-mba/) - Founder and Managing Partner at 20/20 Healthcare Partners, LLC Hillel is the Managing Partner of 20/20 HealthCare Partners, LLC, (20/20 HCP), a global investment entity he founded in 2005. 20/20 HCP has invested in many successful companies including Viztek (acquired by Konica Minolta in 2015), Corindus Vascular Robotics (purchased by Siemens HealthCare in 2019), XR
- [Christine Stanley, PhD, FACMG](https://www.variantyx.com/company/team/leadership/christine-stanley-phd-facmg/) - As Chief Genomics and Compliance Officer at Variantyx, Christine is responsible for overseeing clinical genomic interpretations and regulatory compliance for the clinical laboratory. Prior to joining Variantyx, Christine held positions as Head of Clinical Laboratory at WuXi NextCODE, Chief Director of Clinical Genomics at Courtagen Life Sciences and Genetics Director at Athena Diagnostics. Christine holds
- [Jeffrey Weisberg](https://www.variantyx.com/company/team/leadership/jeffrey-weisberg/) - Jeff serves as Chief Financial Officer at Variantyx, joining with more than 30 years of financial, operations and leadership experience in a variety of Fortune 250 and private companies. After starting his career as a CPA at Deloitte & Touche, Jeff served as CFO and then General Manager of Athena Diagnostics, Inc. During his nearly
- [Gadi Toren, MBA](https://www.variantyx.com/company/team/leadership/gadi-toren-mba/) - Investment Partner at Bosch Ventures Gadi is an Investment Partner at Bosch Ventures, a global venture company founded in 2007. Based in the Tel Aviv office, he is responsible globally for the search area of Healthcare and for the Israeli Venture Capital activity of Bosch. Gadi has been active in Venture Capital since 1998, focused
- [Lior Shahory, MBA](https://www.variantyx.com/company/team/leadership/lior-shahory-mba/) - General Partner at Peregrine Ventures Lior Shahory is a General Partner at Peregrin Ventures, a leading global life science venture capital fund founded in 2001. He serves as CEO of Peregrine’s Incentive tech incubator and has served on the Board of Directors for many companies including Momentis, Restore, Eximo, Cordio, Valtech, Magneto, Mend.io, Marketyze, Endostream,
- [Hila Karah](https://www.variantyx.com/company/team/leadership/hila-karah/) - Managing Partner at Pitango HealthTech Hila is a Managing Partner of the HealthTech fund at Pitango, a global investment firm founded in 1993. She brings over 20 years of life science experience to her role, including time spent as a consultant advising on business strategy. Prior to Pitango, Hila was a Chief Investment Officer of
- [Elizabeth Garcia, PhD](https://www.variantyx.com/company/team/leadership/elizabeth-garcia/) - Elizabeth serves as Vice President, Lab Operations and has over 20 years’ experience developing diagnostic assays utilizing a variety of molecular techniques in startup, academic and industry settings. Elizabeth’s early focus on neurobiology at the HHMI Yale University and Sention led to novel molecular screening methods, ultimately co-founding Primera Diagnostics, a diagnostic company based on
- [Raya Neerman](https://www.variantyx.com/company/team/leadership/raya-neerman/) - Raya serves as Vice President of Sales Operations. Since joining Variantyx in 2016, she has been instrumental in growing test volume through the development and oversight of Clinical Operations which covers the entire process from receipt of orders to delivery of reports to ordering physicians. With her new appointment, she assumes additional responsibility for Sales
- [Tomer Jackman](https://www.variantyx.com/company/team/leadership/tomer-jackman/) - As VP Customer Support and Lab Services, Tomer is responsible for delivering services to customers. Prior to co-founding Variantyx, Tomer was responsible for hardware development operations in the Pivotal/Greenplum division of EMC2 where he helped develop server clusters for “Massive Parallel Processing” databases. This followed a decade with EMC2 in several hardware engineering roles and
- [Eyal Reinstein, MD, PhD, DABMGG](https://www.variantyx.com/company/team/leadership/eyal-reinstein/) - Eyal serves as the Chief Medical Officer and joined Variantyx in December 2019 as a medical director reviewing, advising, and approving clinical cases. Eyal earned his PhD in biochemistry and MD in internal medicine, both from the Technion-Israel Institute of Technology. He completed his clinical genetics fellowship at the UCLA Medical Genetics Program. During his
- [Yaron Rachmany](https://www.variantyx.com/company/team/leadership/yaron-rachmany/) - Yaron Rachmany oversees Operations, R&D, IT Systems and Security, Information Systems and Business Processes at Variantyx. Prior to joining Variantyx, Yaron served as Director of Systems Operations and as a Director of IT Applications at Semtech Corporation (NASDAQ: SMTC). Prior to Semtech Yaron held the VP of Information Systems position with Credorax. Prior to Credorax,
- [Haim Neerman](https://www.variantyx.com/company/team/leadership/haim-neerman/) - Haim’s career spans over 20 years of technology entrepreneurship. Prior to co-founding Variantyx, Haim co-founded Credorax Inc. – a global credit card acquiring bank, Fabrix systems (acquired by Ericson), Bandwiz Inc. and Actil Ltd. Haim is a physics, math and computer science graduate of the Talpiot program / Hebrew University of Jerusalem.

## Webinars

- [Unraveling Complex Ataxia Cases Through Whole Genome Sequencing](https://www.variantyx.com/resources/provider-resources/webinars/unraveling-complex-ataxia-cases-through-whole-genome-sequencing/) - Explore how Whole Genome Sequencing (WGS) aids in diagnosing complex ataxia cases. Dr. Christine Stanley presents real-world examples showcasing WGS's diagnostic power.
- [The Future is Here: How genomes are revolutionizing genetic testing](https://www.variantyx.com/resources/provider-resources/webinars/the-future-is-here-how-genomes-are-revolutionizing-genetic-testing/) - Join Dr. Christine Stanley, Chief Director of Clinical Genomics at Variantyx, as she explores the advantages of Whole Genome Sequencing over Whole Exome Sequencing in this NSGC-sponsored webinar.
- [The Benefits of a Whole Genome Platform for Diagnostics in Prenatal, Pediatrics, and Beyond](https://www.variantyx.com/resources/provider-resources/webinars/wholegenomebenefits/) - Take a deep dive into whole genome analysis Whole genome sequencing as a diagnostic test has become a popular topic in the news and social media. At Variantyx, we’ve been performing whole genome sequencing for years. Join us online for a deep dive into what makes whole genome sequencing different from other NGS technologies, and

## Categories

- [Other](https://www.variantyx.com/company/blog/category/uncategorized/) - View Variantyx’s full sitemap to quickly explore their comprehensive genetic testing services, resources, company information and support tools in one navigable directory.
- [Employee Spotlight Series](https://www.variantyx.com/company/blog/category/employee-spotlight/) - Discover Variantyx’s Employee Spotlight series—read personal journeys, career stories and behind-the-scenes insights from the team driving innovation in WGS and genomic diagnostics.
- [Clinical Education](https://www.variantyx.com/company/blog/category/clinical-education/) - Explore Variantyx’s Clinical Education archive — delve into expert analyses on genetic disorders, WGS applications, and advancements in clinical diagnostics.
- [New & Updated Tests](https://www.variantyx.com/company/blog/category/testing-news/)
- [Press Releases](https://www.variantyx.com/company/blog/category/press-release/)

## Tags

- [Long-Read Sequencing](https://www.variantyx.com/company/blog/tag/long-read-sequencing/)
- [Pharmacogenomics](https://www.variantyx.com/company/blog/tag/pharmacogenomics/)
- [Hereditary Cancer](https://www.variantyx.com/company/blog/tag/hereditary-cancer/)
- [Prenatal Testing](https://www.variantyx.com/company/blog/tag/prenatal-testing/)
- [ACMG Secondary Findings](https://www.variantyx.com/company/blog/tag/acmg-secondary-findings/)
- [Repeat Expansions](https://www.variantyx.com/company/blog/tag/repeat-expansions/)

## Types

- [News](https://www.variantyx.com/company/blog/news-type/news/)
- [Article](https://www.variantyx.com/company/blog/news-type/article/)

## Types

- [Leadership](https://www.variantyx.com/company/blog/people-type/leadership/)
- [Executive Team](https://www.variantyx.com/company/blog/people-type/executive-team/)
- [Board of Directors](https://www.variantyx.com/company/blog/people-type/board-of-directors/)
- [CEO](https://www.variantyx.com/company/blog/people-type/ceo/)