Genomic Unity® CSTB Gene Analysis

Genomic Unity® CSTB Gene Analysis is an an effective test for progressive myoclonic epilepsy type 1A.

For comprehensive coverage of epilepsy-related genes in addition to CSTB, consider Genomic Unity® Epilepsy Analysis.

Order this test when the patient presents with symptoms of progressive myoclonic epilepsy type 1A and you'd like the option to specifically test the CSTB gene, keeping the option to reflex up to Genomic Unity® Whole Genome Analysis.

  • Sequencing analysis of the CSTB gene
  • Del/dup analysis of the CSTB gene
  • Tandem repeat expansion analysis of the CSTB gene

Optionally includes:

  • Reflex to Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis

CSTB

SNVs and Indels up to 50bp
99.7% sensitivity
99.6% positive predictive value

Structural variants:
96% clinical sensitivity

Short tandem repeats:
Full mutation tandem repeats, and in some cases intermediate and/or premutation repeats, are reported with the number of repeats. All reported tandem repeat expansions are confirmed by an orthogonal technology.

81188, 81189, 81479

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.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 6-8 weeks from sample receipt.