In the United States, four clinical labs testing for the GAA repeat expansion in the gene (FGF14) that causes SCA27B. Of these labs, CeGaT and Baylor Genetics also offer testing outside of the U.S.
The SCA27B test (repeat GAA expansion in FGF14) is now also available through Variantyx. Your neurologist or genetic counselor can order your test here:
Your provider will need to set up a simple online account with a UN/PW to order your genetic test through the online portal. Variantyx will test for the repeat expansion causing SCA27B with a panel of other hereditary ataxias. Your provider will determine what test panel is best for you.
CeGaT is a global provider of genetic analyses for a wide range of medical, research, and pharmaceutical applications.
Founded in 2009 in Tübingen, Germany, the company combines state-of-the-art sequencing technology with medical expertise – with the aim of identifying the genetic causes of diseases and supporting patient care. For researchers and pharmaceutical companies, CeGaT offers a broad portfolio of sequencing services and tumor analyses. CeGaT generates the data basis for clinical studies and medical innovations and drives science forward with its own insights.
The owner-managed company stands for independence, comprehensive personal customer service, and outstanding quality. CeGaT’s laboratory is accredited according to CAP/CLIA, DIN EN ISO 15189, DIN EN ISO/IEC 17025, and thus meets the highest international standards. To obtain first-class results, all processes are carried out in-house under scientific and medical supervision.
For patients with spinocerebellar ataxia type 27B (SCA27B) we established a test for FGF14 repeat expansions. As the pathogenicity of the repeat expansion in FGF14 is determined by a more complex structure than other repeat expansion diseases, our diagnostic approach is based on long-range PCR, capillary electrophoresis, and agarose gel electrophoresis, delivering reliable results for patients.
Information on Baylor Genetics coming soon