Laboratory Test DirectoryShare
Spinal Muscular Atrophy (SMA), for NY State
|Methodology:||Real-time polymerase chain reaction (PCR)|
|Reported:||5-8 days (when cell culture is required, add ~2 weeks)|
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.
Note: When ordering spinal muscular atrophy for prenatal samples, cultures will be needed.
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 . *
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.|