A client account needs to be set up prior to submitting specimen(s). If you don’t have an account, or are unsure if you have an account, please contact Venessa Gamboa at 312-213-5441 or at venessa.gamboa@uchicagomedicine.org
Our lab is excited to announce that we are now offering FGF14 repeat expansion testing for spinocerebellar ataxia type 27B (SCA27B). This is available as a single gene repeat expansion analysis or as part of our ataxia repeat expansion panel.
Our lab is now offering RFC1 sequencing in addition to repeat expansion testing. Read more about our experience with RFC1 and repeat expansion testing for ataxia.
An intronic GAA expansion in the FGF14 gene has recently been identified in several individuals with previously unexplained late-onset ataxia (PMID: 36516086, 36493768).
An intronic GAA expansion in the FGF14 gene has recently been identified in several individuals with previously unexplained late-onset ataxia (PMID: 36516086, 36493768).
