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Test Code SMA / 481630-LC Spinal Muscular Atrophy

Important Note

This test may require pre-authorization or have limited coverage.  Please check with your appropriate insurance carrier to determine any specific requirements.

Additional Codes

Software Test Code

Label Text

 SMA
EPIC LAB20510
LabCorp 481630

 

Performing Laboratory

Integrated Genetics via LabCorp

Useful For

Carrier testing for individuals in the general population, or individuals with a family history of SMA, or couples who are planning a pregnancy or who are already pregnant. Pediatric or adult diagnostic testing when a diagnosis of SMA is suspected. 

To test fetal specimens, including cordblood, order Spinal Muscular Atrophy (SMA), Fetal Analysis [481651].

Specimen Type

Volume 8.5 mL whole blood; 20 mL whole blood if ordering multiple tests

Container Whole blood: Yellow-top (ACD-A) tube (preferred) or lavender-top (EDTA) tube; yellow-top (ACD-B) tube is not acceptable

Specimen Collection and Handling

Storage Instructions: Maintain specimen at room temperature.

Causes for Rejection: Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container or blood specimens more than four days post draw

Specimen Stability Information

Specimen Type

Temperature

Time

Whole Blood

Ambient

4 days at room temperature or 4°C

CPT Code Information

CPT Code CPT Description CPT Disclaimer
81329 Smn1 gene dos/deletion alys  

 

Additional Notes and Limitations

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.