Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine

Test Code

Test Details

Test code: 6023
Type of disorder: Epilepsy
Disease(s) tested for: Epilepsy
Genes Included: ATP1A2, CACNA1A, NOTCH3, POLG, PRRT2, SCN1A, SLC2A1
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information

Clinical Significance: This diagnostic panel detects DNA sequence variants and copy number variations (CNV) in genes associated with migraine, a frequent comorbidity in epilepsy. Epilepsy and migraine are among the most prevalent presentations. Migraine and epilepsy share specific clinical features, overlapping pathophysiological mechanisms, interventions and therapeutics. The diagnosis and treatment of each disorder must take into account the potential presence of the other. In some cases a single medication can be used to treat both migraine and epilepsy, while in other cases the medication for one disorder may be contradicted for the other.
Methodology: Next Generation Sequencing, Copy Number Variation Analyses using Next Generation Sequencing, Targeted Microarray
Reference Range: See Laboratory Report

CPT Coding

The CPT codes provided are based on AMA guidelines and 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.

CPT: 81443(1)

Specimen Requirements

Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Specimen Requirements: 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum)
Instructions: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.

Shipping Considerations

Transport Temperature: Room temperature
Set-up/Analytic Time: 28-35 days

Additional Resources

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