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 speach, heart function, spasticity in the lower limbs and scoliosis, Approximately one third of individuals with FRDA will also develop diabetes mellitus.

Category

Cost

Diagnostic (Expansion)

PCR + TP-PCR $300

Sizing of expansion (gel) $250

Diagnostic Sequencing $500

Carrier testing (Expansion) $250

Carrier testing (Sequencing) $200

Prenatal $600

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

Reporting time

4 - 6 weeks (Diagnostic)

4 - 6 weeks (Predictive)

4 days - 3 weeks (Prenatal)

3 - 4 months (sequencing)

Contacts

Dr Belinda Chong

Phone (03) 9936 6550

Specimen Requirements

EDTA blood: Adult: 2 x 5 ml

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