SMA is an autosomal recessive condition that affects nerves in the spinal cord and causes muscles to get progressively weaker. There are four types of SMA with SMA type 1 being the most common and most severe. Babies with SMA type 1 have weak muscles from birth and usually do not live past two years of age. SMA types 2 and 3 are less severe than type 1 and symptoms typically develop in childhood. SMA type 4 is the mildest form and develops during adulthood. There is no cure for SMA, however treatment is aimed at managing symptoms and improving quality of life.
Carrier screening (SMN1 Quantitation) AUD$220. This test available to order and pay online. NB. Patients must have a completed doctors request form to order this test online.
Diagnostic testing (SMN1 Quantitation) $220
SMN2 Quantitation $350
Full gene sequencing (Diagnostic) $550
Sequencing (Carrier) $250
Victorian Patients Only: State funding for testing high risk patients (diagnostic and prenatal) and carrier screening for parents of an affected child.
5 - 10 working days (Carrier, Diagnostic, SMN2 Quantitation)
1 - 3 weeks (Prenatal)
4 - 6 weeks (Sequencing - Carrier)
Contact Lab for Linkage and full gene sequencing reporting times.
Phone: 1300 11 8247
Email: [email protected]
EDTA blood: Adult: 4 ml / Child: 1 - 2 ml or Saliva Sample.
Amniotic Fluid 20 ml
Chorionic Villus 20 mg
Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.