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HelpTest Code MISC6ATHENA1129 SCN1A Sequencing and CNV Evaluation
Department
SEND OUTS
Reference Lab Test Number
1129
Collection Requirements
Informed Consent Required: This test requires physician attestation that patient consent has been received.
8 mL whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL.
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.
Refer To
Primary Collection Container
2 – Lavender 4 mL (K3EDTA)
Alternate Collection Container
2 – Lavender 6 mL (K3EDTA)
Transport
Whole blood ambient
Preferred Transport Temperature
Ambient
Stability
Ambient:10 days
Refrigerated:10 days
Frozen: Unacceptable
Minimum Testing Volume
Adult: 6 mL
Pediatric: 1 mL
Reference Range
By report
Methodology
Next Generation Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA)
Reported
29-36 days
CPT Codes
-81407, 81479
Unacceptable Conditions
Specimens received frozen.
Additional Information
Detects sequence variations and copy number variations (CNV) in the SCN1A gene in patients with atypical febrile seizures, and afebrile tonic-clonic, myoclonic, absence, or atonic seizures. Patients may develop other symptoms after age one, including myoclonic, absences, atonic, and partial seizures.