GeneDx Repeat Expansion Genetic Testing for Ataxias

GeneDx’s comprehensive test menu spans single-gene, multi-gene, Xpanded, and exome analysis to create a cost-effective, single stop for ataxia-related genetic testing for adults and children.

Identification of repeat expansions requires specialized methods for analyzing repetitive DNA that are distinct from those used for single nucleotide variations (SNVs) and copy number variations (CNVs). That’s why repeat expansions are not detected by exome or multi-gene panel analysis, which utilize Next Generation Sequencing (NGS) technology. That's also why repeat expansion testing can't be added to an exome test.

TEST NAME	TEST CODE	INDICATIONS
Dentatorubral-Pallidoluysian Atrophy Repeat Analysis	TH97	Children with ataxia, myoclonus, epilepsy, and neurodegeneration Adults with ataxia, choreoathetosis, dementia, and behavioral changes
Friedreich Ataxia Repeat Analysis	TH95	Adults and children with dysarthria, muscle weakness, spasticity, scoliosis, and absent lower-limb reflexes
Friedreich Ataxia Sequencing & Del/Dup	TH94	Adults and children with a clinical diagnosis of FA and/or a single repeat expansion in the FXN gene
Ataxia Xpanded^®	J762	Children with a complicated presentation that may include ataxia, poor coordination, dysarthria, and/or nystagmus
FMR1 CGC Repeat Analysis	522	Adults with a clinical diagnosis of Fragile X tremor/ataxia syndrome (FXTAS), or adult onset tremor, ataxia, and cognitive decline
Spinocerebellar Ataxia Type 1 Repeat Analysis	TH84	Adults with progressive gait ataxia, hand dysmetria, dysarthria, cerebellar atrophy, and neuropathy
Spinocerebellar Ataxia Type 2 Repeat Analysis	TH85	Adults with progressive gait ataxia, hand dysmetria, dysarthria, cerebellar atrophy, neuropathy, eye movement abnormalities, and dementia
Spinocerebellar Ataxia Type 3 Repeat Analysis	TH86	Adults with progressive gait ataxia, hand dysmetria, dysarthria, cerebellar atrophy, fasciculations, and sensory loss
Spinocerebellar Ataxia Type 6 Repeat Analysis	TH87	Adults with very slowly progressive gait ataxia of an episodic nature, hand dysmetria, dysarthria, and cerebellar atrophy
Spinocerebellar Ataxia Type 7 Repeat Analysis	TH88	Adults with progressive gait ataxia, hand dysmetria, dysarthria, cerebellar atrophy, and visual loss
Spinocerebellar Ataxia Type 8 Repeat Analysis	TH89	Adults with slowly progressive gait ataxia, hand dysmetria, dysarthria, and cerebellar atrophy
Spinocerebellar Ataxia Repeat Expansion Analysis	TH83	Adults with progressive gait ataxia, hand dysmetria, dysarthria, and cerebellar atrophy
Xpanded^® Adult Movement Disorders Panel	TK79	Adults who are negative for repeat expansions in the above genes, but have any form of gait abnormality, not limited to ataxia
XomeDx ^®Plus - Trio XomeDx^®Plus - Duo XomeDx^®Plus - Proband	690a 690e 690b	Adults who are negative for repeat expansions in the above genes, but have any form of gait abnormality, not limited to ataxia, and possibly multiple presenting features

MORE ANSWERS FOR PEOPLE WITH ATAXIA

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WHEN AFFORDABILITY AND EXPERTISE MATTER

AFFORDABLE

We believe people with ataxia should be able to more easily find answers to their genetic health questions. That’s why we offer the most comprehensive test menu, at affordable prices.

EXPERIENCED

We have a long-standing history of thoughtful variant interpretation, supported by hundreds of genetic counselors and MD/PhD scientists with extensive clinical experience and peer-reviewed publications.

DATA-DRIVEN

We compare every case to our unparalleled GeneDx database that includes over 1 million tests performed, which leads to fewer uncertainties and more diagnoses.

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TEST METHODOLOGY AND OFFERING

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