Spinal Muscular Atrophy test

Genetic test for SMA carrier status and diagnosis through SMN1 gene mutations.

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

Medicare eligibility

For carrier screening only (73451/73452)

Price

$195 if not Medicare eligible

Test request form

Standard pathology request form

Sample type

Blood

Collection type

6mL EDTA tube

Special instructions

None