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MORE ANSWERS FOR PEOPLE WITH ATAXIA

At GeneDx, we’ve broadened our ataxia and repeat expansion test menu, offering comprehensive and affordable test options for both children and adults. 

The genes analyzed by our ataxia testing covers the vast majority of genes involved with pediatric-onset and adult-onset ataxias.

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UNDERSTAND THE BASICS OF ATAXIA

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Ataxia refers to clumsiness or a loss of balance and coordination that is not due to muscle weakness. It is a degenerative disease of the nervous system that may or may not be progressive. While a number of factors can cause ataxia, approximately 60-70% of ataxia cases have an underlying genetic cause.1,2 

Genetic testing examines DNA to look for changes in the genes that may cause ataxia, and it can provide a family with more answers. A movement disorder specialist can be helpful in determining the exact cause and identifying appropriate treatment.

WHEN AFFORDABILITY AND EXPERTISE MATTER

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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.

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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.

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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.

See how we're leading the industry

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TEST METHODOLOGY AND OFFERING

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.

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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

 

_computer_icon_2x-1Visit the GeneDx Provider Portal for easy, paperless ordering.

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ORDERING INFO

For the broadest differential and when medically necessary, single or multi-gene repeat expansion tests may be ordered concurrently or reflexively with an exome or an Xpanded panel.

Healthcare providers can place orders through our Provider Portal, providing fast, paperless access to benefits investigation, test status, and results.

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GET STARTED

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REFERENCES: 1.  Fogel, Brent L et al. “Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.” JAMA neurology vol. 71,10 (2014): 1237-46. doi:10.1001/jamaneurol.2014.1944 2.  Németh, Andrea H et al. “Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.” Brain: a journal of neurology vol. 136,Pt 10 (2013): 3106-18. doi:10.1093/brain/awt236.