Test description
Spinal Muscular Atrophy is the most common genetic cause of mortality in children under two. It is an autosomal recessive condition and testing for the SMN1 deletion is associated with more than 95% of cases.
Test information
Test name
Spinal Muscular Atrophy (SMA)
Clinical indication
- Carrier screening
- Diagnostic testing
Gene(s)
SMN1
Method
PCR/ Capillary Electrophoresis
Turn around time
2 weeks
Price
$195 if not Medicare eligible
Test request form
Standard pathology request form
Sample type
Blood
Collection type
6mL EDTA tube
Special instructions
None