We See More in Epilepsy

All epilepsy genetic tests are not equal. With our whole genome platform we see more. More variants, with greater resolution, all with one sample.

A genetic diagnosis can be life changing

An accurate genetic diagnosis enables the best possible medical management. Testing may:

  • Identify disorders with specific targeted treatments
  • Identify treatments to stop or avoid
  • Identify eligible clinical trials
  • Reduce the need for additional, invasive testing
  • Inform family planning
  • Connect families with support networks

Many epilepsy patients benefit from genetic testing

Of infants and children with epilepsy experience seizures due to a genetic cause.
Of diagnosed patients in one study experienced clinical management changes1.
Of those patients with follow up data saw a reduction or elimination of seizures1.

The testing methodology makes a difference

Of diagnosed patients in one study would not have been diagnosed by comparative panel testing2.
Of patients in another study were diagnosed by WGS, compared to only 28% with targeted panels3.

Whole genome testing reveals more in every test

Genetic disorders are caused by a wide variety of DNA changes. Comprehensive detection of all major clinically relevant variant types requires the right technology. PCR-free whole genome sequencing (WGS) generates uniform coverage of >98% of the patient’s DNA. Compare that to PCR-based panel and exome technologies that remove and skew data, generating fragmented coverage of only 1-2% of the patient’s DNA. Pairing WGS with our Genomic Intelligence® proprietary analytical software provides the most comprehensive variant detection available.

Variants detected by our targeted Genomic Unity® Epilepsy Analysis include:

Sequence variants

Including SNVs, indels, intronic and regulatory variants in 378 epilepsy-associated genes

Structural variants

Including CNVs (duplications, deletions), inversions and MEIs in 378 epilepsy-associated genes

Repeat expansions

Short tandem repeat expansions in the AFF2, CSTB, DIP2B, and FMR1 genes

Our comprehensive analyses extend detection to >30 additional repeat expansion genes, mitochondrial sequence variants (with heteroplasmy) and mitochondrial deletions. View our epilepsy test portfolio.

More variants are revealed with greater resolution

Our whole genome platform has a detection range from 1bp to whole chromosomal events. Intronic and intergenic regions are always included. As a result, our testing identifies copy number variants (plus complex structural variants like inversions) missed by other exome and panel tests. Explore two representative example cases.

Rett syndrome diagnosis

Variantyx testing identified a 453bp partial exon deletion in MECP2  previously missed by an epilepsy panel, whole exome sequencing and whole genome sequencing by another provider. Patients with diagnosed MECP2 variants are now candidates for treatment with Trofinetide.

Download Case Study

X-linked DEE2 diagnosis

Variantyx testing identified a 2.1kb single exon deletion in CDKL5 previously missed by chromosomal microarray (CMA), an epilepsy panel and whole exome sequencing. Patients with diagnosed CDKL5 variants are now candidates for treatment with Ganoxolone.

Download Case Study

Learn more about our testing options

Genomic Unity® Epilepsy Analysis

A targeted analysis of 378 genes associated with seizures, with or without other symptoms.

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Genomic Unity® Comprehensive Mitochondrial Disorders Analysis

A targeted analysis of 335 nuclear genes associated with mitochondrial disorders plus the mitochondrial genome.

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Genomic Unity® Exome Analysis

Comprehensive exome analysis including SNVs, CNVs, and short tandem repeat expansions.

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Genomic Unity® Exome Plus Analysis

Comprehensive exome analysis including SNVs, CNVs, STRs and mitochondrial variants.

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Genomic Unity® Whole Genome Analysis

Our most comprehensive test covering all relevant genes and variant types.

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See More With Your Epilepsy Testing

Let’s talk about bringing the power of whole genome sequencing to your practice.

Connect with a Clinical Specialist