SPINAL MUSCULAR ATROPHY (SMA), CARRIER DETECTION

SMA of all types is associated with homozygous mutations in the survival motor neuron 1 gene (SMN1). This test detects homozygous deletion of SMN1 Exon 7 and or Exon 8 which accounts for 95% of SMA. It detects both active and carrier status of the disease.

  • Test Type:
  • Pre-test Information:
    No Special preparation required
  • Report Delivery:
    Sample Mon by 11 am; Report Sat
  • Components:
    0

Sample Report