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 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
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 hasn’t been determined for repeat expansions for AFF2, CSTB and DIP2B.
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
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.
