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 54 ataxia-associated genes

Structural variants

Including CNVs (duplications, deletions), inversions and MEIs in 54 ataxia-associated genes

Repeat expansions

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

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

Sequence variants

Including SNVs, indels, intronic and regulatory variants in 16 ataxia-associated genes

Structural variants

Including CNVs (duplications, deletions), inversions and MEIs in 16 ataxia-associated genes

Repeat expansions

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

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.

Download Case Study