Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial
testing, commonly referred to as the “diagnostic odyssey”. Patients in resource-limited areas …

Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …

Up to 350 million people worldwide suffer from a rare disease, and while the individual
diseases are rare, in aggregate they represent a substantial challenge to global health …

Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …

Objective Use next-generation sequencing (NGS) technology to improve our diagnostic
yield in patients with suspected genetic disorders in the Asian setting. Design A diagnostic …

The standard of care for first-tier clinical investigation of the aetiology of congenital
malformations and neurodevelopmental disorders is chromosome microarray analysis …

Purpose Availability of clinical genomic sequencing (CGS) has generated questions about
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …

Background About 80% of the roughly 7,000 known rare diseases are single gene
disorders, about 85% of which are ultra-rare, affecting less than one in one million …

Background To diagnose the full spectrum of hereditary and congenital diseases, genetic
laboratories use many different workflows, ranging from karyotyping to exome sequencing. A …

Background We report the findings from 4437 individuals (3219 patients and 1218 relatives)
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …