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Spinal Muscular Atrophy (SMA), for NY State

T257


Methodology: Real-time polymerase chain reaction (PCR)
Performed: Mon-Thu
Reported: 5-8 days (when cell culture is required, add ~2 weeks)
Specimen Required: Collect:  Lavender-top (EDTA) tube or Yellow-top (ACD-A) tube - Adults: 10 mL (2 tubes) whole blood; 20 mL whole blood if ordering multiple molecular tests / Prenatal: One T-25 flask of confluent fetal cells.
Pregnancy Week:
0–13 Weeks
14–21 Weeks
22+ Weeks

Note: When ordering spinal muscular atrophy for prenatal samples, cultures will be needed.

Specimen Preparation:
Prenatal testing: All prenatal specimens (including cord blood) must be accompanied by a maternal blood or mouthwash specimen for analysis of possible maternal cell contamination. Discard first 2 mL; then 15 mL amniotic fluid in 15 mL orange-top polypropylene tube, 10-15 mg chorionic villi in laboratory-provided screw-top tubes with sterile transport medium or one T-25 flask of confluent cells. Note: When ordering spinal muscular atrophy for prenatal samples, cultures will be needed. Additional sample must be obtained for back-up culture at one of our cytogenetics laboratories or another facility. If additional testing is desired, more amniotic fluid is needed. For example, chromosome analysis requires an additional 15-25 mL and AFAFP requires an additional 2 mL

Storage/Transport Temperature: Room Temperature

Stability: Room Temperature: 48 hours

Causes for Rejection: Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; unlabeled or mislabeled specimen; blood samples older than 4 days; Yellow-top (ACD-B) tube is not an acceptable specimen.

Comment: DO NOT ship specimens from Friday to Sunday.

NOTE: * This test is approved for New York patients ONLY, please refer to test code
N450 for specimen requirements for all other States . *

Performing Laboratory
Integrated GENETICS LabCorp Specialty Testing Group
CPT Code(s): 81401 If reflex testing is performed, additional charges/CPT
Test Panel Components Test includes SMN1 copy number analysis with reflex to SMN2 copy number analysis for specimens with 0 SMN1 copy result. If reflex testing is performed, additional charges/CPT codes may apply.

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