Genomic Unity® Epilepsy Analysis

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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 378 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, CSTB, DIP2B, and FMR1 genes.

Optionally includes:

Included Genes

AllABCDEFGHIJKLMNOPQRSTUVWXYZ

Note: The PRODH and SIK1 genes are not fully covered by this test; therefore, variants in certain regions of these genes may not be detected.

Disorders

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

Short tandem repeats:

Due to the variable nature of repetitive sequences and sequence-specific differences in detection and repeat evaluation, orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.

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

Blood

5ml

Saliva

2ml

gDNA

5μg

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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