7/1/2023 0 Comments Rna sequence![]() Autosomal recessive disorders where there is only one mutation identified and a second has not been found or may be a VUS.No genetic diagnosis following WGS or suitable exome/panel test where clinically there is still high suspicion of a genetic cause.A candidate variant of uncertain significance (VUS) identified via whole-genome sequencing (WGS), exome, panel or single-gene sequencing that warrants further assessment.This project is focussing on three groups of patients: The South West GMSA are also running a project in parallel which looks specifically at Long Read DNA sequencing, more information about this project can be found on their website. This in turn will make targeted gene therapies available. It is hoped that RNA sequencing can provide a new diagnosis to patients who have undergone genetic testing such as whole genome sequencing but have yet to have a diagnosis confirmed. Commissioned by NHSE as part of the programme of national transformation projects supported in 2022-2023, it aims to pave the way for RNA sequencing to be made available on the National Genomic Test Directory, as part of standard NHS care. Preconception Optimised Exome Testing (POET):Ĭentral and South GMSA are working with the North West and South West GMSAs on this exciting RNA sequencing project.Genomic testing for paediatric endocrinology.Genomics Pathology Accelerator Project (GPAP).Facilitating WGS in ophthalmology clinics.Evaluating Familial Screening After a Hypertrophic Cardiomyopathy-Related Sudden Cardiac Death.For Healthcare professionals Menu Toggle. ![]()
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