Spinal Muscular Atrophy (SMA) Carrier Screen
Also known as: SMA Silent Carrier, SMN2 Copy Number, SMN Deletions, SMN1 Copy Number, 2+0 Silent Carrier
Use
Carrier screening for spinal muscular atrophy (SMA), a progressive, neuromuscular genetic disease affecting motor nerve cells in the spinal cord and a leading cause of infant mortality. This test helps identify individuals—especially including silent carriers—who carry SMN1 gene mutations, enabling informed reproductive planning and early intervention. Quest’s version improves detection over conventional SMN1 copy-number screening by assessing arrangement of copies to detect silent carriers, enhancing actionable insights for reproductive risk assessment.
Special Instructions
Not provided.
Limitations
Not provided.
Methodology
PCR-based (qPCR)
Biomarkers
SMN1, SMN2
Gene
LOINC Codes
- 19146-0 - Ref Lab Test Results
- 35462-1 - SMN1 gene Mut Anl Bld/T
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
Lavender top (EDTA)
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | 14 days |
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