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.
Sample Mon by 11 am; Report Sat
Disorders of Nervous System
Duly filled Genomics Clinical information requisition form (Form 20) is mandatory.
4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical information requisition form (Form 20) is mandatory.