|
|
| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine
Test Code94560
CPT Codes
81185, 81405, 81406 (x2), 81407, 81479<br><strong>Limited Access Code</strong>
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Includes
ATP1A2, CACNA1A, NOTCH3, POLG, PRRT2, SCN1A, SLC2A1
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 Years): 2 mL whole blood
Pediatric (0-3 Years): 2 mL whole blood
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
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.
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.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing • Copy Number Variation Analyses using Next Generation Sequencing • Targeted Microarray
Setup Schedule
Set up: As needed; Report available: 28-35 days
Reference Range
See Laboratory Report
Clinical Significance
This diagnostic panel detects DNA sequence variants and copy number variations (CNV) in genes associated with migraine, one of the most recognized frequent comorbidityies in epilepsy. Epilepsy and migraine are among the most prevalent clinical presentations. Migraine and epilepsy share specific clinical features, overlapping pathophysiological mechanisms, interventions and therapeutics. This comorbidity affects both diagnosis and treatment. 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.
