MISSED BY OTHERS, DETECTED BY US
Genomic Unity^® Case Study

Friedreich ataxia diagnosis enables access to treatment options

Clinical presentation

A 10-year-old male presented with the following symptoms:

Multiple tests focused on the neuropathy symptoms were performed with negative results, including:

was ordered because of its ability to identify all major variant types in a single test.

Variantyx Genomic Unity^® testing identified two pathogenic GAA expansions in the FXN gene.

Long-read sequencing confirmed the expansions, further characterizing the sizes as >450 and 850 repeats.

Diagnosis: Friedreich ataxia

Uniform data from WGS clearly identifies the two FXN repeat expansions.

Why was Genomic Unity® testing able to identify the previously missed FXN expansion?

Repeat expansions can not be detected by standard genetic tests, including gene sequencing, panels and exomes.
Variantyx genome analysis detects all major variant types in a single test including small sequence changes, structural variants, repeat expansions and mitochondrial variants.
Repeat expansions can be detected by PCR and Southern blotting, but FXN would have to be specifically targeted. This wasn’t a likely choice for testing given the focus on the peripheral neuropathy symptoms.
Variantyx genome analysis detects repeat expansions in >35 genes, including FXN. If Genomic Unity® had been ordered as first-line testing, the FXN expansions would have been identified immediately, allowing for earlier access to omaveloxolone treatment and the potential to slow progression of the patient’s ataxia symptoms.

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