Cascade testing in mitochondrial diseases: a cross-sectional retrospective study.

ABSTRACT:

Background

Cascade testing can offer improved surveillance and timely introduction of clinical management for the at-risk biological relatives. Data on cascade testing and costs in mitochondrial diseases are lacking. To address this gap, we performed a cross-sectional retrospective study to provide a framework for cascade testing in mitochondrial diseases, to estimate the eligibility versus real-time uptake of cascade testing and to evaluate the cost of the genetic diagnosis of index cases and the cost of predictive cascade testing.

Methods

Data was collected through retrospective chart review. The variant inheritance pattern guided the identification of eligible first-degree relatives: (i) Males with mitochondrial DNA (mtDNA) single nucleotide variants (SNVs) - siblings and

SUBMITTER: Haque S 

PROVIDER: S-EPMC11396135 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature