Ordering Recommendation

Use to confirm a suspected diagnosis of spinal muscular atrophy (SMA) and quantify SMN2 copy number for treatment purposes in affected individuals. Use for prenatal or preconception carrier screening for SMA in the general population, carrier screening for the reproductive partner of a known SMA carrier, and carrier screening for parents of a child with a deletion of the SMN1 gene or other family history of SMA.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation

Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)

Specimen Preparation

Transport 2 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated. Also acceptable: Ambient.

Unacceptable Conditions

Room Temperature: 1 week; Refrigerated: 1 month; Frozen: Unacceptable.


Multiplex Ligation-Dependent Probe Amplification (MLPA)




7-14 days

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)


Hotline History


CPT Codes



Component Test Code* Component Chart Name LOINC
2013437 SMA Copy Number, Specimen 31208-2
2013438 SMA Copy Number, Symptoms 75325-1
2013439 SMA Copy Number, SMN1 Copies 35462-1
2013440 SMA Copy Number, SMN2 Copies 54449-4
2013441 SMA Copy Number, Linked Variant 82155-3
2013442 SMA Copy Number, Int 49857-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • SMA
  • SMN1
  • SMN2
  • Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA) Copy Number Analysis