Overview

Friedreich ataxia (FRDA) is characterised by slowly progressive ataxia which becomes apparent between age ten and 15 years. FRDA is typically associated with muscle weakness which impacts on speech, heart function, spasticity in the lower limbs and scoliosis, approximately one third of individuals with FRDA will also develop diabetes mellitus.

Category

Cost

Victorian patients only:
State funding for testing high risk patients (diagnostic (expansion) and prenatal testing) and carrier testing (expansion) for parents of an affected child.

For non Victorian patients, please contact [email protected] for current pricing.

Test types:

Diagnostic (expansion) PCR + TP-PCR

Sizing of expansion (gel): please contact lab to discuss

Carrier testing (expansion) & prenatal diagnosis.

Please see below for sequence based diagnostic testing information and pricing:

Reporting time

Diagnostic & predictive testing: 4 - 6 weeks

Prenatal testing: 4 days - 3 weeks

Sequencing based testing: 3 - 4 months

Contacts

P: 1300 118 247
E: [email protected]

Specimen Requirements

EDTA blood: Adult: 2 x 5 ml

Saliva sample - saliva collection kits are available trough VCGS.

Prenatal:

  • Amniotic fluid 20ml
  • Chorionic villus 20mg

Notes

Patient to be referred to a neurologist for diagnostic tests and to a genetics clinic for predictive/prenatal testing.

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

Genes tested