Spinal Muscular Atrophy (SMA), Fetal Analysis
Also known as: Arthrogryposis multiplex congenita, SMA testing, SMN1 copy number analysis
Use
This test is used for prenatal diagnosis for pregnancies at risk for spinal muscular atrophy.
Special Instructions
Labcorp clients with 8-digit client account numbers should contact Labcorp before collecting specimens. Maternal blood, buccal swab kit, or saliva kit is required for maternal cell contamination analysis. A separate requisition is needed for the maternal specimen.
Limitations
The test does not detect germline mosaicism and large chromosomal aberrations or variants in regions or genes not included in this test. False-positive or false-negative results may occur due to rare genetic variants, sample mislabeling, or other reasons. The test has not been cleared or approved by the FDA.
Methodology
PCR-based (qPCR)
Biomarkers
LOINC Codes
- 42784-9
- 31208-2
- 89993-0
- 42349-1
- 11951-1
- 41053-0
- 54449-4
- 53039-4
- 8262-8
- 59266-7
- 62385-0
- 55752-0
- 8251-1
- 49549-9
- 36908-2
- 75608-0
- 72486-4
- 51969-4
Result Turnaround Time
8-14 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
One confluent T-25 flask
Minimum Volume
One confluent T-25 flask or 3 mL cord blood
Container
Sterile plastic conical tube or T-25 flask; cord blood: yellow-top (ACD-A) or lavender-top (EDTA) tubes
Collection Instructions
Standard sterile techniques; transfer aseptically to sterile tubes. Discard first 2 mL of amniotic fluid aspirated to avoid maternal cell contamination.
Storage Instructions
Maintain specimen at room temperature. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Please ship expedited at room temperature. |