clinician treating a patient

Revolutionizing genetic testing for rare disease 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

Variants detected and analyzed by Genomic Unity™

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

     Deletions

     Duplications

     Insertions

     Inversions

     Translocations

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Mitochondrial variants (≥5% heteroplasmy) checkmark
Tandem repeat expansions checkmark

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™ testing

coverage

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 multiple variant types from a single patient sample.

additional variants

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.

additional variants

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.

rerun analysis

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.

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

deeper dive

Take a deeper dive into the data

Performance statistics

Read the BMC Genomics article that documents the clinical validation of our structural variant pipeline

Flexible ordering options

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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