Friedreichs Ataxia

The Friedreich’s ataxia test looks for an expanded repeat in the FXN gene, the change that causes most cases of Friedreich’s ataxia, an inherited condition affecting balance and coordination.

What the test looks for

Friedreich’s ataxia is a recessive condition: a person is affected when both copies of the FXN gene carry the change. In most cases, the change is an expansion of a short repeated DNA sequence (GAA) in the gene. The lab uses triplet-primed PCR (TP-PCR) and fragment analysis to detect this expansion and estimate its size.

People with one expanded copy are carriers. They do not usually have symptoms but can pass the change to their children.

Who might consider it

• People whose neurologist suspects Friedreich’s ataxia because of symptoms such as unsteady walking, clumsiness or loss of reflexes, often beginning in childhood or the teenage years
• Relatives of someone with Friedreich’s ataxia who want to know their carrier status
• Couples with a family history planning a pregnancy

Before you book

The test uses one blood sample. Our team can collect it at your home or office anywhere in Dubai, or you can visit our lab in Al Karama or Al Barsha 1. The lab asks for a signed consent form and your relevant medical history with the sample, as it does for all genetic tests. Results are usually ready in 25–30 days.

Understanding your results

The report says whether an expanded GAA repeat was found in one copy, both copies or neither. Two expanded copies confirm the diagnosis in someone with symptoms; one expanded copy usually means carrier status. Because results affect the whole family, discuss them with your neurologist or a genetic counsellor.