CeGaT has expanded and refined its Diagnostic Panel for Neurodegenerative Diseases based on the latest medical and scientific findings. The updated version contains 50 additional genes and covers medically relevant repeat expansions such as RFC1.
As part of the panel update, a new gene set for essential tremor has been added. International studies show a prevalence of around one percent in the general population and higher rates in older adults, making essential tremor one of the most common movement disorders. Its broad clinical presentation can complicate assessment, especially in patients with early-onset symptoms or a family history. The new gene set supports a more targeted evaluation of suspected hereditary essential tremor and helps distinguish it from other neurological conditions.
Repeat expansion analyses – RFC1 & FGF14
In addition, the panel contains a new repeat analysis for RFC1. Pathogenic RFC1 expansions cause CANVAS (cerebellar ataxia, neuropathy, and vestibular areflexia syndrome) and occur in other late-onset ataxias and neuropathies. Since RFC1 repeat expansions cannot be identified with standard exome diagnostic methods, we implemented a dedicated PCR-based workflow to reliably identify pathogenic homozygous AAGGG RFC1 repeat expansions in EDTA blood.
An analysis of FGF14 repeat expansions is also included in our analysis. Pathogenic FGF14 expansions are an important cause of late-onset cerebellar ataxia (SCA27B). These cases are often missed because symptoms are nonspecific and long repeat expansions are difficult to detect with standard methods. By performing a reliable FGF14 repeat analysis, we enable earlier clarification in patients with unexplained ataxia and help avoid unnecessary diagnostic steps.
More information about the updated Diagnostic Panel for Neurodegenerative Diseases is available on our website: