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Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders

Test Code
94561


CPT Codes
81404, 81405 (x3), 81406 (x2), 81407 (x2), 81408, 81479<br><strong>CPT coding may differ dependent on payer rules which may impact prior authorization testing.</strong><br><strong>Please direct any questions regarding CPT coding to the payer being billed.</strong><br>&#8288;&#8288;&#8288;&#8288;&#8288;&#8288;&#8288;<br>Limited Access Code

Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
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.

Note: 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


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 well- characterized classical single gene syndromic disorders that can cause variable and complex epilepsy presentations. These include long-recognized disorders (e.g., tuberous sclerosis, Lesch-Nyhan syndrome, Alexander disease), and disorders only recently recognized such as EAST, SESAME, and Koolen-De Vries syndromes.




The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.