Friedreich Ataxia
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 $1,000
Carrier testing (Expansion) $300
Carrier testing (Sequencing) $250
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
Phone: 1300 11 8247
Email: [email protected]gs.org.au
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.