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.
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.
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.
|Dentatorubral-Pallidoluysian Atrophy Repeat Analysis||TH97||
Children with ataxia, myoclonus, epilepsy, and neurodegenerationAdults 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|
|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|
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.
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.