SMA Carrier Screen

Test Code
444

Test Details


Test code: 444
Type of disorder: Motor Neuron Disorders
Disease(s) tested for: Symptomless Carriers of Spinal Muscular Atrophy (SMA)
Genes Included: SMN1 Del, SMN2 Del
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information


Clinical Significance: Determines if a couple is at increased risk of giving birth to a child with spinal muscular atrophy (SMA) by detecting copy number (dosage) of the SMN1 and SMN2 genes. If the couple is at risk, additional testing can be done to determine if the child will be born with SMA.
Methodology: qPCR
Reference Range: Normal: Presence of two or more SMN1 gene copies (dosage)

CPT Coding


The CPT codes provided 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 payer being billed.

CPT: 81329(1)

Specimen Requirements


Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Specimen Requirements: 4 mL (2 mL minimum) whole blood collected in (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum)
Instructions: 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

Shipping Considerations


Transport Temperature: Room temperature
Set-up/Analytic Time: 4 days

Additional Resources

Letters of Medical Necessity

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