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 380 epilepsy-associated genes

Structural variants

Including CNVs (duplications, deletions), inversions and MEIs in 380 epilepsy-associated genes

Repeat expansions

Repeat expansions in the AFF2, ARX, CSTB, DIP2B, FMR1 and GLS 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