# FA can only be confirmed through genetic testing
Keywords: Friedreich's ataxia, genetic testing, FXN gene, GAA triplet-repeat expansion, specialised care, PCR, Southern blot, multigene panels, whole exome sequencing, ataxia

> This page provides essential information about Friedreich's ataxia (FA), its genetic basis, diagnostic methods, and the importance of early and accurate genetic testing to confirm the condition and provide appropriate care.

## Details
- [FA Overview](#): Friedreich's ataxia is an inherited condition caused by a GAA triplet-repeat expansion within the FXN gene, leading to severe symptoms and requiring specialised care.
- [Genetic Testing](#): Nearly all FA cases are caused by GAA triplet-repeat expansions, making targeted genetic testing critical for accurate diagnosis.
- [Testing Methods](#): Single-gene testing using PCR and Southern blot can detect GAA repeat expansions, while standard multigene panels and whole exome sequencing may not be effective.
- [Specialised Care](#): Patients diagnosed with FA should be referred to experienced specialists or ataxia centres for effective disease management.
- [National Genomic Test Directory](#): Provides guidance on the appropriate genetic tests for clinical indications and the methodologies to be used.
- [Patient Communication](#): Emphasises the importance of discussing genetic testing implications with patients and ensuring timely referrals to clinical geneticists when mutations are identified.