Spinal Muscular Atrophy (SMA)
Also known as: SMA testing, SMA types I, II, III, SMN1 copy number analysis
Use
This test is used for carrier screening for spinal muscular atrophy and diagnostic testing for individuals suspected of having spinal muscular atrophy.
Special Instructions
For fetal specimens including cord blood, the specific test 'Spinal Muscular Atrophy (SMA), Fetal Analysis [481651]' should be ordered. Test orders need to include an attestation that the provider has obtained the patient's informed consent for genetic testing. It's important not to eat, drink, smoke, or chew gum 30 minutes prior to sample collection.
Limitations
This test does not detect germline mosaicism and cannot identify large chromosomal aberrations such as rearrangements and gene fusions. It does not evaluate variants in genes not included in the test nor does it consider inter/intragenic interactions or repeat expansions. Results may be impacted by rare genetic variants, pseudogene interference, or identity issues such as mislabeled samples.
Methodology
PCR-based (qPCR)
Biomarkers
LOINC Codes
- 42784-9
- 31208-2
- 89993-0
- 42349-1
- 41053-0
- 54449-7
- 53039-4
- 8262-8
- 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
Whole Blood
Volume
8.5 mL
Minimum Volume
3 mL
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy; follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container or blood specimens more than four days post draw
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |