Genomic Unity® CACNA1A Analysis
Genomic Unity® CACNA1A Analysis is an effective test for certain ataxias, early infantile epileptic encephalopathy and familial hemiplegic migraine.
For comprehensive coverage of ataxia-related genes in addition to CACNA1A, consider Genomic Unity® Comprehensive Ataxia Analysis.
Order this test when the patient presents with symptoms of certain ataxias, early infantile encephalopathy and/or familial hemiplegic migraine and you'd like the option to specifically test the CACNA1A gene, keeping the option to reflex up to Genomic Unity® Exome Plus Analysis.
- Sequencing analysis of the CACNA1A gene
- Del/dup analysis of the CACNA1A gene
- Tandem repeat expansion analysis of the CACNA1A gene
- Reflex to Genomic Unity® Exome Plus Analysis
SNVs and Indels up to 50bp
99.6% positive predictive value
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.
81184, 81185, 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.