Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations

Test Code

94556

CPT Codes
81403, 81404 (x4), 81405 (x4), 81406 (x4), 81407, 81408 (x2), 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

ARFGEF2, ARX, COL4A1, CPT2, DCX, EMX2, FGFR3, FKRP, FKTN, FLNA, GPR56, LAMA2, LARGE1, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB3GAP1, RELN, SRPX2, TUBA1A, TUBA8, TUBB2B, WDR62, ASPM, CENPJ, DEAF1, DPYD, FOLR1, MCPH1, NDE1, QARS, SHH, SIX3, SLC25A19, STIL, TSEN54

Preferred Specimen

8 mL whole blood collected in two EDTA (lavender-top) tubes, or
Pediatric volume: 2 mL whole blood

Minimum Volume

6 mL • 1 mL pediatric

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.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable

Methodology
Next Generation Sequencing • CNV Analys using NGS • 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 developmental brain malformations including neuronal migration/positioning defects and developmental disruptions that result in conditions such as holoprosencephaly, lissencephaly, pachygyria, microcephaly/microencephaly, or subcortical band heterotopia, and others. These conditions are often diagnosed by neuroimaging when patients present with epilepsy. Though these conditions can be highly variable in terms of severity, all are associated with seizures.

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.