Title

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.

Document Type

Article

Publication Date

11-1-2011

Abstract

Orphan diseases are individually uncommon but collectively contribute significantly to pediatric morbidity, mortality and healthcare costs. Current molecular testing for rare genetic disorders is often a lengthy and costly endeavor, and in many cases a molecular diagnosis is never achieved despite extensive testing. Diseases with locus heterogeneity or overlapping signs and symptoms are especially challenging owing to the number of potential targets. Consequently, there is immense need for scalable, economical, rapid, multiplexed diagnostic testing for rare Mendelian diseases. Recent advances in next-generation sequencing and bioinformatic technologies have the potential to change the standard of care for the diagnosis of rare genetic disorders. These advances will be reviewed in the setting of a recently developed test for 592 autosomal recessive and X-linked diseases.

Publication Title

Expert review of molecular diagnostics

ISSN

1744-8352

Volume

11

Issue

8

First Page

855

Last Page

868

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