Genomic Unity® Epilepsy Analysis

Test Description

Test Code – NR004

Epilepsy is a result of abnormal brain activity leading to seizures, which can have a wide range of presentations. These episodes may include uncontrolled twitching of arms and legs, staring into space, loss of attention, confusion, loss of consciousness or awareness, sudden feelings of fear or anxiety, and complaints of unusual sensations such as sights, sounds, tastes, smells, and feelings. Importantly, seizures are not always easily recognizable, particularly in young children.

Genomic Unity® Epilepsy Analysis uses a whole genome sequencing platform to diagnose genetic causes of epilepsy, with or without other symptoms, in 380 genes.

When to order

Order this test when clinical symptoms are consistent with seizures. You also have the option to reflex up to Genomic Unity® Exome Analysis or Genomic Unity® Exome Plus Analysis if targeted analysis is non-diagnostic.

Included Analyses

  • Sequence analysis of seizure-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants).
  • Copy number variant analysis of seizure-associated genes (duplications/deletions, mobile element insertions, and inversions).
  • Short tandem repeat (STR) analysis of the AFF2, ARX, CSTB, DIP2B, FMR1 and GLS genes. (Learn more)

Optionally includes:

Included Genes

Note: The ARX, IQSEC2, KDM5C, MAGI2, PRIMA1, PRODH, SIK1, SLC6A8, SRPX2 and SYN1 genes are not fully covered by this test, therefore not all pathogenic variants may be detected. The PRODH, SIK1 and TUBB2B genes contain regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation. The false negative rate for repeat expansions has not been determined.


This test covers many disorders including:

  • Generalized epilepsies
  • Focal epilepsies
  • Epileptic encephalopathies
  • Familial febrile seizures
  • Neuronal ceroid lipofuscinosis syndromes
  • Leukodystrophies
  • Nuclear mitochondrial complex deficiencies
  • Congenital disorders of glycosylation
  • Fragile X syndrome
  • Rett and Rett-like syndromes

Test Performance

Sensitivity for SNVs
 >  %
Specificity for SNVs
Positive predictive value for SNVs
Clinical sensitivity for structural variants
Clinical sensitivity for STRs

CPT Codes

81419, 81404, 81405, 81406, 81407

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Accepted Specimens







Turnaround Time

A report will be issued within 4 weeks from receipt of required samples.

Contact Us

Please contact customer service to request a kit.

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