Spinal Muscular Atrophy (SMA), Fetus
Also known as: SMA Fetal, SMN1, SMA Prenatal Diagnostic
Use
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
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA. It is strongly recommended that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required. Please call 1‑866‑GENE‑INFO prior to submission.
Limitations
Not provided.
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 19146-0
- 35462-1
- 54449-4
Result Turnaround Time
7 days
Related Documents
For more information, please review the documents below
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 |