Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.

ABSTRACT:

Background

The clinical diagnosis of Fabry Disease (FD) can be challenging due to the clinical heterogeneity, especially in females. Patients with FD often experience a prolonged interval between the onset of symptoms and receiving a diagnosis. Genetic testing is the gold standard for precise diagnosis of FD, however conventional genetic testing could miss deep intronic variants and large deletions or duplications. Although next-generation sequencing, which analyzes numerous genes, has been successfully used for FD diagnosis and can detect complex variants, an effective and rapid tool for identifying a wide range of variants is imminent, contributing to decrease the diagnostic delay.

Methods

The comprehensive Analysis of FD (CAFD) assay was developed for FD genetic diagnosis

SUBMITTER: Yao F 

PROVIDER: S-EPMC11603755 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature