Yale New Haven Hospital

Department of Laboratory Medicine
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SMA plus (reflexive)

Lab Section: 

Sendout Reference


Lab Location: 


Reference Lab: 

Athena Diagnostics


Test ID: 




Sanger Sequencing, qPCR


Send sample to lab Mon-Thurs by 12 noon.


25 days

Specimen Requirements: 

Collection: 4.0 mL Blood in a Lavender Top Tube.
Pediatric volume: 2 mL.
Athena DiagnosticsTest requisition and Consent forms must accompany the sample.
Transport: Ship room temperature, avoid freezing.
Handling: Sample shipped Mon-Thurs.
Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable


Note: Detects copy number (dosage) of the SMN1 and SMN2 genes. Sequencing is performed reflexively when a single copy of SMN1 is found.


Reference Interval: 

See patient report or consult reference laboratory website.

CPT Code(s): 

Step 1: 81401(1); Steps 1 & 2: 81401(1), 81405(1)

Last Changed: 

8/23/2017 5:12:38 PM

Last Reviewed: 

8/23/2017 5:12:46 PM