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Spinal Muscular Atrophy (SMN1/SMN2 Dosage)

Collection Requirements

Source: blood

Container: EDTA lavender
Volume:

  • Preferred: 3 mL in vacutainer
  • Minimum: 1 mL in vacutainer


Source: buccal/saliva
Container: OraCollect Kit


Source: amniotic fluid
Container: minimum 2 sterile centrifuge tubes
Volume: 20 mL amniotic fluid

 

Source: chorionic villi
Container: sterile cup or tube with sterile transport medium
Volume: optimal sample is >50 mg of chorionic villi


Source: tissue
Container: sterile cup with sterile transport medium
Volume: 20 mg tissue

 

Source: tissue, fresh frozen
Container: sterile cup
Volume: 20 mg tissue

Special Instructions

Contact Genetics for transport medium

Turn Around Time

7 days

Availability

Routine

Lab Processing Instructions

Specimen: whole blood
Room temperature or refrigerate

 

Specimen: buccal/saliva, amniotic fluid, chorionic villi, or tissue in transport medium
Room temperature

 

Specimen: tissue, fresh frozen

Freeze

Performing Laboratory

Adele Hall

Adele Hall Lab Section

Molecular Genetics

Instrumentation/Methodology

Multiplex ligation dependent probe amplifaction (MLPA) is used to detect copy number changes in the SMN1 and SMN2 genes

Additional Information

Spinal muscular atrophy (SMA) is characterized by muscle  weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adolescence or young adulthood. The weakness is symmetric, proximal > distal, and progressive.

Reference Ranges

See interpretive report

CPT

81329