Casandra
Casandra Test Code QD45184Version 1 (DRAFT)
Performing Lab
Spinal Muscular Atrophy (SMA), Fetus
Also known as: SMA Fetal, SMN1, SMA Prenatal Diagnostic
Clinical Use
Order TestUse
Spinal Muscular Atrophy (SMA), Fetus assesses fetal SMN1 and SMN2 copy number. This test will determine whether a fetus is affected by SMA, caused by deletions of at least exon 7 of the SMN1 gene. It does not determine the presence or absence of a sequence variant in the SMN1 gene. In addition, it does not assess risk for 2+0 carrier status.
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
PCR-based (PCR)
Biomarkers
SMN1, SMN2
GeneCopy Number
Concentration / Level • Quantitative (Continuous) (e.g., copies/mL, % expression)
LOINC Codes
Order Codes
- 19146-0 - Ref Lab Test Results
Result Codes
- 35462-1 - SMN1 gene Mut Anl Bld/T
- 54449-4 - SMN2 gene Mut Anl Bld/T
Result Turnaround Time
7 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Body Fluid
Volume
10 mL (10 mL minimum)
Minimum Volume
Not provided
Container
sterile, leak‑proof container
Storage Instructions
Store and ship room temperature immediately. Do not refrigerate or freeze.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
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