We See More in Ataxia

All ataxia genetic tests are not equal. With our whole genome platform we see more. More variants, with greater resolution, all with one sample.

A genetic diagnosis can be life changing

An accurate genetic diagnosis enables the best possible medical management. Testing may:

  • Inform prognosis
  • Identify disorders with specific targeted treatments
  • Identify treatments to stop or avoid
  • Identify eligible clinical trials
  • Inform family planning
  • Connect families with support networks

Whole genome testing reveals more in every test

Comprehensive detection of all major clinically relevant variant types requires the right technology. Which is why we use PCR-free whole genome sequencing (WGS) which generates uniform coverage of >98% of the patient’s DNA. Compare that to PCR-based panel and exome technologies that remove and skew data, generating fragmented coverage of only 1-2% of the patient’s DNA. Pairing WGS with our Genomic Intelligence® proprietary analytical software provides the most comprehensive variant detection available.

Different testing needs for different hereditary ataxias

Hereditary ataxias generally fall into one of two categories: nucleotide repeat expansion disorders and other common hereditary ataxia disorders. Each has its own unique testing requirements.

Nucleotide repeat expansion disorders

Nucleotide repeat expansions are the most common cause of hereditary ataxias, including many of the spinocerebellar ataxias1. Within a gene, a sequence of nucleotides – often CAG – is repeated in an expanded stretch.

Common panel and exome tests are unable to detect these expansions.

Other common hereditary ataxia disorders

Sequence variants, including small sequence changes as well as larger structural changes such as copy number variants (CNVs), cause less common hereditary ataxia disorders1.

Specialized assays designed to detect repeat expansions may not include testing for sequence variants or may be limited by the range of detection.

Variantyx takes a unique approach to genetic testing for ataxia

Ataxia genes
Repeat expansion genes
Variant types
Sample

Our ataxia tests

Variants detected by our targeted Genomic Unity® Comprehensive Ataxia Analysis include:

Sequence variants

Including SNVs, indels, intronic and regulatory variants in 55 ataxia-associated genes

Structural variants

Including CNVs (duplications, deletions), inversions and MEIs in 55 ataxia-associated genes

Repeat expansions

Expansions in ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FGF14, FMR1, FXN, GLS, NOP56, PPP2R2B, RFC1, TBP and ZFHX3

Variants detected by our targeted Genomic Unity® Ataxia Repeat Expansion Analysis include:

Sequence variants

Including SNVs, indels, intronic and regulatory variants in 17 ataxia-associated genes

Structural variants

Including CNVs (duplications, deletions), inversions and MEIs in 17 ataxia-associated genes

Repeat expansions

Expansions in ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FGF14, FMR1, FXN, GLS, NOP56, PPP2R2B, RFC1, TBP and ZFHX3

Our comprehensive analyses extend detection to >20 additional repeat expansion genes, mitochondrial sequence variants (with heteroplasmy) and mitochondrial deletions. View our complete ataxia test portfolio.

More variants are revealed with greater resolution

Our whole genome platform has a detection range from 1bp to whole chromosomal events. Intronic and intergenic regions are always included. As a result, our testing identifies more repeat expansions than any other provider as well as small sequence variants and copy number variants. The result is the most comprehensive testing possible, providing diagnoses for even the most elusive cases. Explore a representative example.

Compound heterozygous Friedreich ataxia diagnosis

Variantyx testing identified a repeat expansion plus a 2.7kb deletion in FXN that had previously been missed by gene sequencing.  Patients with diagnosed Friedreich ataxia are now candidates for treatment with Skyclarys.

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Learn more about our testing options

Genomic Unity® Comprehensive Ataxia Analysis

A targeted analysis of 55 genes associated with ataxia.

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Genomic Unity® Ataxia Repeat Expansion Analysis

A targeted analysis of 17 repeat expansion genes associated with ataxia.

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Genomic Unity® Movement Disorders Analysis

A targeted analysis of 239 genes associated with movement disorders, including ataxia.

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Genomic Unity® Comprehensive Mitochondrial Disorders Analysis

A targeted analysis of 336 nuclear genes associated with mitochondrial disorders plus the mitochondrial genome.

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Genomic Unity® Exome Analysis

Comprehensive exome analysis including SNVs, CNVs and repeat expansions.

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Genomic Unity® Exome Plus Analysis

Comprehensive exome analysis including SNVs, CNVs, repeat expansions and mitochondrial variants.

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Genomic Unity® Whole Genome Analysis

Our most comprehensive test covering all relevant genes and variant types.

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Learn more about

Repeat expansions included in Variantyx testing

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Longer ZFHX3 repeat lengths correlate with earlier SCA4 onset

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Variantyx now tests for CANVAS and SCA27B

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See More With Your Ataxia Testing

Let’s talk about bringing the power of whole genome sequencing to your practice.

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