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Test 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.

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.