TESTING METHODOLOGY

Diagnostic Testing
with Genomic Unity®

REVOLUTIONIZING GENETIC TESTING FOR ALL PATIENTS

Traditional genetic tests detect only certain types of changes in an individual’s DNA. Sanger and NGS methodologies are used for small sequence changes. Southern blots for detection of large short tandem repeat expansions (STRs) and large deletions. PCR and capillary electrophoresis for shorter STRs. qPCR and MLPA for deletions and duplications, and arrayCGH/microarray, FISH and karyotype for gross chromosomal deletions.

At Variantyx, we use a single method to detect all of these variant types from a single sample, providing our findings in a single, unified clinical report.

“We were very lucky that Variantyx, within a short time, identified the specific mutation in the HSPB8 gene … this has led us to develop a whole research project around this family’s mutation.”

– Dr Virginia Kimonis,
Professor UC Irvine, Department of Pediatrics and Genetics

SNVs
Small indels (<50bp)

Structural variants  (≥50bp)

Deletions

Duplications

Mobile element insertions

Inversions

Unbalanced translocations

Mitochondrial variants (≥5% heteroplasmy)
Tandem repeat expansions

VARIANTS DETECTED AND ANALYZED BY GENOMIC UNITY®

Using multiple different methods to detect different types of variants is a slow process that leaves open the possibility of missing a diagnostic connection in a patient with a combination of changes.

For example, arrayCGH analysis by one laboratory may identify a heterozygous deletion. Subsequently, panel or exome testing by another laboratory may identify a heterozygous SNV.

A connection between these two results can easily be overlooked when analyzed independently. It’s only when the data is analyzed together the compound heterozygous relationship becomes clear.

THE METHOD BEHIND GENOMIC UNITY®

PCR free whole genome sequencing

We use PCR free whole genome sequencing (WGS) as the underlying NGS technology. Its consistent read depth across >98% of the genome enables identification of all major variant types from a single patient sample.

Proprietary algorithms

We have built proprietary algorithms optimized for each variant type which are used to perform discrete in-silico analyses of the data which are brought together for collective interpretation, providing a more complete genetic picture.

Expert variant interpretation

Our rigorously trained variant scientists interpret all variant types in the context of the patient’s phenotype and generate a unified clinical report that is reviewed and signed by our board-certified clinical and molecular geneticists.

Ability to rerun analyses, without resequencing

Because the entire genome has been sequenced and the analyses are performed in-silico, the data can be reanalyzed at any time to incorporate new findings from the scientific literature or to reinterpret variants in the context of newly acquired phenotypes.

FLEXIBLE ORDERING OPTIONS

Start with a targeted analysis and reflex up

Our targeted analyses provide the option to start with a subset of genes that are typically associated with a particular condition. In the case that the targeted analysis is negative, you have the option to automatically reflex up to a comprehensive analysis.

You also have the option to construct a custom analysis from >4,000 medically relevant genes when you order our Genomic Unity® Custom Analysis.

 

Or order a comprehensive analysis from the start

Our Genomic Unity® Exome Plus Analysis and Genomic Unity® Whole Genome Analysis tests are not limited to a specific subset of genes. All genes are considered by the phenotype-driven analysis for the most comprehensive analysis possible.

WE MAKE THE GENETIC TESTING PROCESS AS EASY AS POSSIBLE

Flexible billing

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

Review billing information

Fast turnaround

Receive a clinical report within 6-8 weeks of sample receipt

View sample requirements

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 test requisition and consent form

2. Collect the sample

3. Mail the sample via USPS

4. Receive the report