Working with your doctor to obtain a diagnosis can be difficult, especially with a rare disease. Medical history, family history, and a neurological evaluation are used to diagnose Ataxia. Various blood tests may also be used to rule out other disorders. Your doctor may recommend genetic testing if a hereditary form of Ataxia is suspected.
How to Get a Genetic Test for Ataxia
Genetic testing is available for many hereditary types of Ataxia. Genetic testing can play an important role in determining options that are available for you. Some research opportunities and clinical trials might require a confirmed diagnosis of Ataxia to participate.
Genetic testing for the Ataxias is complicated, has different methodologies and needs to be carefully chosen in order to provide accurate information. NAF recommends that anyone having genetic testing work with a certified genetic counselor so that the appropriate genetic test is selected. More information can be found at the National Society of Genetic Counselors website.
Genetic tests need to be ordered by a physician. Use this resource as a tool to start the conversation about your options. Talk with your doctor to make the right choice for your situation. Need help selecting a doctor? Find an Ataxia clinic or neurologist near you.
You need to get tested - Here's why
Dr. Jeremy Schmahmann’s presentation at our 2018 Annual Ataxia Conference was titled: “Genetic Testing: You need to get tested, here’s why.” This presentation provides information that will help you think through the decision of getting genetic testing. Dr. Schmahmann refers to this as, “The Need to Know Imperative.” He said this is how you take charge of your own life. You can make informed decisions for your future. It ends the diagnostic journey and puts you in the driver seat. For the dominant forms of Ataxia, the power of gene testing is not only for you, but also for your children.
NAF encourages anyone seeking genetic testing to schedule an appointment with a genetic counselor prior to the testing.
Companies that Offer Genetic Tests for Ataxia
AmbryGen – Several of their neurological tests are:
- Fragile X-associated Disorders – Fragile X-associated disorders (FXD) is a group of genetic conditions caused by changes in the FMR1 gene and include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI).
- ExomeNext® – ExomeNext is a comprehensive test analyzing all ~20,000 genes, providing detailed information on novel discoveries to improve patient outcomes.
- NeuropathySelect – NeuropathySelect is a comprehensive panel designed for patients experiencing symptoms associated with polyneuropathy but lacking a clear diagnosis. Given the overlap in genetic causes and variability in clinical symptoms and presentation1-3, NeuropathySelect represents the most effective way of identifying at-risk individuals, or confirming a diagnosis.
Athena Diagnostics – They test for the following:
- Oculomotor Apraxia Ataxia Advanced Sequencing Evaluation – This test includes 2 genes sequenced for oculomotor apraxia including APTX and SETX.
- Ataxia, Complete Recessive Evaluation – This test includes FXN repeat expansion test, 18 genes sequenced, and ATM deletion test that identifies genes associated with autosomal recessive Ataxias, including Friedreich Ataxia.
- Ataxia, Comprehensive Evaluation – This test includes 11 repeat expansion tests, 33 genes sequenced, and ATM deletion test that identifies mutations and repeat expansions associated with all types of hereditary Ataxias. This test may be useful for suspected hereditary Ataxia with unavailable or inconclusive family history.
- Friedreich Ataxia (FXN) DNA Sequencing Test – Detection of sequence variants of FXN. Typical Presentation: Children and Adults: Ataxia, dysarthria, muscle weakness, spasticity in the lower limbs, areflexia, cardiomyopathy, diabetes mellitus. Indications for testing: Clinical features consistent with those of Friedreich’s Ataxia.
- Episodic Ataxia Evaluation – This test includes sequencing of the following genes CACNA1A, SLC1A3, KCNA1, and CACNB4. This test covers the most common causes for Episodic Ataxia which is a variable condition characterized by intermittent attacks of Ataxia and vertigo.
- Ataxia, Complete Dominant Evaluation – This test includes 10 repeat expansion tests and 16 genes sequenced that identifies mutations and repeat expansions associated with autosomal dominant forms of Ataxia.
B. Braun CeGaT LLC – CeGaT is a leading global provider of genetic diagnostics and mutation-related disease analyses.
- CeGaT extends on their Diagnostic Panels the spectrum of Neurodegenerative Diseases from 16 to 22 subpanels. In addition to their existing panels for Parkinson´s disease, dementia, ALS, dystonia and other hereditary neurodegenerative syndromes which have been updated, they now offer new subpanels for Ataxia, hereditary spastic paraplegia, spinal muscular atrophy, choreatic movement disorders and leukodystrophy/ leukoencephalopathy.
- In total, they offer the analysis of 238 genes.
Blueprint Genetics – The Blueprint Genetics Ataxia panel covers classical genes associated with Cerebellar Ataxia, Spinocerebellar Ataxia and Episodic Ataxia. The genes on the panel have been carefully selected based on scientific literature, mutation databases and their experience.
Centogene – CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for Patients. CENTOGENE accepts Medicare across the U.S. and accepts Medicaid in selected states.
- Cerebellar Ataxia panel: APTX, COQ2, COQ8A, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, SACS, SETX, SLC2A1, SPG7, SYNE1, TTPA, VLDLR; Repeat expansion genes: FXN
- Episodic Ataxia panel: CACNA1A, CACNB4, KCNA1, SLC1A3; Repeat expansion genes: CACNA1A
Fulgent Genetics – The Ataxia Repeat Expansion Analysis Panel tests for repeat expansions in genes associated with Ataxic conditions. This diagnostic test utilizes two independent algorithms to first screen for repeat expansion signatures from whole genome data, then confirm any genes screening positive for repeat expansions by gene-specific single-gene repeat-primed PCR tests. Diseases targeted are Ataxia, Cerebellar Ataxia, Episodic Ataxia, Dentatorubral-Pallidoluysian Atrophy, Friedreich’s Ataxia and Spinocerebellar Ataxia.
The scope of this assay is limited to repeat expansion analysis of the specified genes. Gene sequencing and deletion/duplication analysis are not included.
GeneDX – Offers a molecular confirmation of a clinical diagnosis and to assist with decisions about treatment and management of individuals with Ataxia, Episodic Ataxia and Spastic Ataxia. Click on the link to view a full menu of testing they offer.
Invitae offers both diagnostic and predictive testing for many of the Hereditary Ataxias for patients who may have one of those types of Ataxia or whose family medical history suggests that they may be facing an increased risk of having that genetic condition. Use the Search feature on the Invitae website to find the types of Ataxia for which Invitae has a genetic test.
MNG/LabCorp – Offers 10 tests:
- Friedreich Ataxia Genetic Testing (Trinucleotide Repeat Expansion);
- Spinocerebellar Ataxia Repeat Expansion Panel (SCA 8, 10, 12, 17, 36 & DRPLA) 6 genes;
- Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA) 11 genes;
- Comprehensive Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36, DRPLA, & FRDA) 12 genes;
- Ataxia/Episodic Ataxia Disorders + mtDNA 361 genes;
- Ataxia/Episodic Ataxia Disorders + mtDNA + SCA & FRDA Repeat Expansion Analysis 361 genes;
- Ataxia/Episodic Ataxia Disorders + mtDNA + FRDA Repeat Expansion Analysis 361 genes;
- Ataxia/Episodic Ataxia Disorders + mtDNA + SCA & HTT Repeat Expansion Analysis 361 genes;
- Ataxia/Episodic Ataxia Disorders + mtDNA + SCA Repeat Expansion Analysis 361 genes;
- Ataxia/Episodic Ataxia Disorders + mtDNA + HTT Repeat Expansion Analysis 361 genes
Prevention Genetics – PreventionGenetics provides patients with sequencing and CNV tests for nearly all clinically relevant genes. These tests include our powerful and comprehensive whole exome sequencing test, PGxome®.
- Ataxia – Spinocerebellar Ataxia Type 17 via the TBP CAG/CAA Repeat Expansion
- Ataxia-Oculomotor Apraxia – Ataxia with Oculomotor Apraxia Panel
University of Chicago – Genetic Testing Options for Ataxia are Repeat Expansion Testing and Exome-based sequencing (565 genes analyzed).
- Repeat Expansion Testing (links to PDF) – Ataxia Repeat Expansion Panel includes repeat expansion testing for 12 genes associated with Ataxia.
- Comprehensive Ataxia Testing (Reflex testing option) – The Ataxia Exome includes exome sequencing and analysis of a predefined set of 565 genes associated with ataxia and assembled by research and clinical experts in the field. These include genes known to be associated with ataxia as the predominant feature, genes associated with ataxia as part of the phenotype, and genes speculated to be involved in an ataxia phenotype based on expert opinion.
- Genetic Testing for CANVAS and Adult Onset Ataxia – CANVAS, cerebellar ataxia, neuropathy, vestibular areflexia syndrome, is a recently recognized cause of hereditary adult-onset ataxia. Individuals with CANVAS have a progressive ataxia of gait and limb dysmetria that presents as unsteadiness, falls, and clumsiness of hands. Sensory neuropathy or neuronopathy leads to altered sensation (pinprick, vibration, position sense) in all limbs. Bilateral vestibular areflexia is apparent as oscillopsia, a vision problem in which objects appear to jump, jiggle, or vibrate when they’re actually still. Cerebellar dysfunction includes dysarthria, dysphagia, and abnormal eye movements. Autonomic dysfunction includes postural hypotension, erectile dysfunction, urinary dysfunction, chronic constipation and/or diarrhea, nausea, vomiting or bloating after a small meal, increased or decreased sweating, and dry mouth/eyes. Chronic cough is also a common finding.
- CANVAS, and a proportion of cases of adult onset ataxia, are caused by expansion of a pentanucleotide repeat (AAGGG) on both copies of the RFC1 gene. Clinical genetic testing of the RFC1 gene became available in October of 2019 at the University of Chicago Genetic Services Laboratory. Over 40% of orders for RFC1 repeat expansion testing have been positive. In samples submitted for the larger Ataxia Repeat Expansion panel, which in addition to RFC1 also includes other genes causative of ataxia, approximately 7% of cases have been positive for biallelic expansion of RFC1. As a result, many individuals who previously had normal genetic testing for hereditary ataxia, have now discovered the cause of their symptoms. The RFC1 repeat expansion test and Ataxia Repeat Expansion tests can be ordered by a physician through the University of Chicago Genetics Services laboratory. Questions about this test can be directed to: firstname.lastname@example.org
University of Utah Health – They screen for polyglutamine-coding CAG repeat expansions in the most common spinocerebellar ataxia (SCA) subtypes — SCA1, SCA2, SCA3, SCA6, SCA7 and SCA17. For known mutations, repeat expansion tests can be ordered for individual genes.
All companies listed here are CLIA (Clinical Laboratory Improvement Amendments) certified diagnostic laboratories. This list may not include all available options and is subject to change. Please consult your doctor for options that are available to you. NAF does not endorse any one genetic testing company. NAF does not provide financial assistance for genetic testing and is not liable for results provided.
Patients seeking genetic testing should work with a qualified health care provider to ensure that the appropriate genetic testing is ordered through a qualified laboratory and that the results of the testing are accurately interpreted.
Email NAF to request to add a genetic test to this list.