clinician treating a patient

Revolutionizing genetic testing for rare disease patients

While traditional tests detect only certain types of changes in an individual's DNA, whole genome testing has the ability to detect nearly all known and potential disease-causing changes with a single test. It provides the most comprehensive testing option for patients currently stuck in a diagnostic odyssey. As well as for patients who are new to genetic testing.

Genomic Unity™ is like an exome test, but better. It uses WGS technology to produce more comprehensive exome data, plus additional data that a regular exome test can't provide.

The advantages of whole genome testing

coverage

Better coverage of exonic variants

Because the entire genome is sequenced without relying on PCR amplification, WGS produces a consistent read depth. This dramatically reduces the number of low coverage areas that can lead to missed exonic variant calls in other types of testing.

additional variants

Detection of additional variant types

WGS’s consistent read depth makes it possible to detect small sequence changes, structural variants, tandem repeat expansions and mitochondrial variants all within a single assay. Including known disease-causing variants in non-coding regions.

rerun analysis

Ability to rerun analyses, without resequencing

Because the DNA regions of interest are not predetermined, WGS data can be stored and reanalyzed at any time. Without collecting another sample, performing another sequencing run or undertaking another genetic test.

Variants detected and analyzed by Genomic Unity™

SNVs checkmark
Small indels (<50bp) checkmark
Structural variants (≥50bp):

     Deletions

     Duplications

     Inversions

     Breakpoints

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Mitochondrial variants (≥4% heteroplasmy) checkmark
Tandem repeat expansions checkmark

Variantyx reports on variants related to the reason(s) for testing. In some instances, such as when a phenotype-relevant variant or gene is associated with multiple disorders, incidental findings may be identified and reported. In addition to phenotype-driven analysis, patients may opt-in to receive pathogenic and likely pathogenic findings in the set of 59 medically actionable genes recommended by the American College of Medical Genetics (ACMG) for secondary/incidental findings.

Suspected diagnoses compatible with testing

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Brain malformations

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Congenital heart defects and cardiomyopathies

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Epilepsy disorders

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Mitochondrial disorders

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Motor neuron disorders

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Movement disorders

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Neurodegenerative disorders

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Neurodevelopmental disorders

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Neuromuscular disorders

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Neuropathies

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Ophthalmology and hearing loss disorders

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Skeletal and connective tissue disorders

We make the genetic testing process as easy as possible

billing

Flexible billing


We accept insurance, institutional and direct patient pay, performing all benefits investigation in-house

Review payment options

turnaround

Fast turnaround


Receive a clinical report signed by our board-certified clinical geneticists within ~8 weeks of sample receipt

View sample requirements

support

Timely support


Our clinical coordinators and geneticists are always available to answer questions - how can we help?

Request an appointment

How to order testing

1. Complete the required form, with billing information
Genomic Unity™ test requisition and consent form
2. Collect the sample
3. Mail the sample via USPS
4. Receive the report

Resources

Request a sample kit

 

View additional resources

 

Request a sample kit

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