Overview

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.

Category

Cost

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

Prenatal $600

Linkage $600

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.

Reporting time

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.

Contacts

Ms Melanie Smith

Phone 1300 11 VCGS (8247)

Specimen Requirements

EDTA blood: Adult: 4 ml / Child: 1 - 2 ml or Saliva Sample.

Prenatal:

Amniotic Fluid 20 ml

Chorionic Villus 20 mg

Notes

Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.

Genes tested