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SPINAL MUSCULAR ATROPHY(SMA) CARRIER SCN

Test Number:
  • 3302
Test Alias:
  • Spinal Muscular Atrophy Carrier Screen
Preferred Specimen:
  • Whole blood
Container Type:
  • EDTA/Lavender Top
  • ACD Yellow Top
  • or Heparin Green Top
Alternative Specimen:
  • 10 mL amniotic fluid in a sterile, leak-proof container or 1mL saliva submitted in Oragene DNA self collection kit
Volume:
  • 4 mL
Collection Instructions:
  • Amniotic fluid: 10mL amniotic fluid submitted in a sterile,leakproof container. Normal collection procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze.

    For prenatal diagnosis with a fetal specimen: 1) Parents must be documented carriers of one of the mutations testing; 2)Maternal blood or DNA must be available to rule out maternal cell contamination; 3) Contact the laboratory genetic counselor before submission.

Transport Temperature:
  • Room temperature or refridgerated. Refridgerated not acceptable for amniotic fluid.
Specimen Stability:
  • Whole Blood:

  • Room Temperature: 8 days
  • Refrigerated: 14 days
  • Frozen: Unacceptable
  • Amniotic fluid:

  • Room Temperature: 48 hours
  • Refrigerated: Unacceptable
  • Frozen: Unacceptable
  • Saliva:

  • Room Temperature: 14 days
  • Refrigerated: 14 days

Methodology:
  • Allele Specific Real-Time Polymerase Chain Reaction (PCR), ddCt Method
CPT Code:
  • 81401
Reject Criteria:
Reference Range:
Report Available:
  • 8 days

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