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Laboratory Test Directory

Spinal Muscular Atrophy, SMN1 Diagnostic

Components

Name Method Department Units
Spinal Muscular Atrophy, Diagnostic Polymerase chain reaction (PCR)
Send Out Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 5 mL
Stability

Refrigerated - 1 week(s)
Room temperature - 2 day(s)

Specimen Preparation

  • Transport to laboratory as soon as possible
  • Do not centrifuge
  • Do not freeze

Reasons for Rejection

  • Frozen whole blood

Comments

This test will identify the copy number of exon 7 of the SMN1 gene (will report both homozygous and heterozygous deletions) and will report SMN2 copy number as well. If you have any questions ordering or need guidance ordering SMA testing please contact a Laboratory Genetics Counselor at 614-722-5321. For the purpose of testing children, this is typically the first step for SMA testing. Sample must be accompanied by completed Pedigree and Requisition forms attached to this entry.

Sendout Lab Staff:

Repeat testing may be requested for inclusion of SMN2 on a previous patient where SMN1 was already tested. The SMN1 must be retested again in parallel during the SMN2 testing.

  1. We require an Epic order for XSMA
  2. OSU must run both tests SMN1 and SMN2
  3. Call OSU Lab for direction (Is DNA from previous sample possible to test)
  4. Always send any blood draws we are provided
  5. ROB over the order
  6. We will be billed for the XSMA

CPT Code

  • 81400