The University of Chicago Genetic Services are pleased to announce we are now offering reduced prices and additional testing options for congenital hyperinsulinism!
The University of Chicago Genetic Services is excited to announce expanded Next-Generation Sequencing panel testing options for a number of rare disorders.
We are now offering additional genes for a number of our panels, including:
Our laboratory has incorporated long-read sequencing into our repeat expansion testing program to complement established PCR and repeat-primed PCR methodologies. Long-read sequencing enables more accurate repeat sizing (especially of large expansions) and direct characterization of repeat sequence composition, providing enhanced resolution of complex repeat regions. This is particularly beneficial for genes such as RFC1 and FGF14, where multiple repeat motifs have been described.
An intronic GAA expansion in the FGF14 gene has recently been identified in several individuals with previously unexplained late-onset ataxia (PMID: 36516086, 36493768). The identification of this intronic expansion has led to the discovery of a new form of autosomal dominant hereditary ataxia, spinocerebellar ataxia type 27B (SCA27B). SCA27B is an autosomal dominant neurodegenerative disorder characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 [MIM#620174]. About half of patients present with episodic features.
An intronic GAA expansion in the FGF14 gene has recently been identified in several individuals with previously unexplained late-onset ataxia (PMID: 36516086, 36493768). The identification of this intronic expansion has led to the discovery of a new form of autosomal dominant hereditary ataxia, spinocerebellar ataxia type 27B (SCA27B). SCA27B is an autosomal dominant neurodegenerative disorder characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 [MIM#620174]. About half of patients present with episodic features.
Update August 8, 2022
Truncating variants in the RFC1 gene have been identified in patients with clinically defined CANVAS in the compound heterozygous state with a repeat expansion in the RFC1 gene. We have identified seven such patients from five unrelated families (PMID 36289003). Sequencing of the RFC1 gene is indicated in CANVAS patients heterozygous for an RFC1 repeat expansion.
We are pleased to announce the addition of FMR1 premutation repeat expansion analysis to our Ataxia Repeat Expansion Panel and our Premature Ovarian Failure Panel, making these tests more comprehensive!
