SPINAL MUSCULAR ATROPHY (SMA) COPY NUMBER ANALYSIS

Specimen Required
Draw blood in a lavender EDTA tube. Send 3.0 mL whole blood (2.0 mL minimum) refrigerated.

Alternate Specimen
Pink (K2EDTA), ACD A or B

Methodology
Multiplex Ligation-dependent Probe Amplification

Stability
Room Temperature: 72 hours; Refrigerated: 7 days; Frozen: Unacceptable

Reference Range
By report

Performed
Varies

Turnaround TimeReported within 16 days
Test CodeSMACN
CPT-4 Code (s)
81401
ZB331
LOINC Codes
SMA Copy Number, Specimen   31208-2  
SMA Copy Number, Symptoms   75325-1  
SMA Copy Number, SMN1 Copies   35462-1  
SMA Copy Number, SMN2 Copies   54449-4  
SMA Copy Number, Linked Variant   82155-3  
SMA Copy Number, Int.   49857-6  

Warde
Medical
Laboratory