Journal Article

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Ding, Yan, Plon, Sharon E, Bainbridge, Matthew N, Muzny, Donna M, Leduc, Magalie S, Person, Richard, Bekheirnia, Mir Reza, Beuten, Joke, Niu, Zhiyv, Yang, Yaping, Kirby, Amelia, Hardison, Matthew, Gibbs, Richard A, Eng, Christine M, Pham, Peter, Ward, Patricia A, Reid, Jeffrey G, Braxton, Alicia, Xia, Fan, Lupski, James R, Scull, Jennifer, Wang, Min, Willis, Alecia, Beaudet, Arthur L

2013

Overview

Whole-exome sequencing can be used to obtain a genetic diagnosis for patients thought to be affected by a genetic disease. Here, investigators providing a sequencing service to physicians report the results for the first 250 consecutive patients who underwent analysis. Mendelian diseases are considered to be rare, yet genetic disorders are estimated to occur at a rate of 40 to 82 per 1000 live births. 1 Epidemiologic studies show that if all congenital anomalies are considered as part of the genetic load, then approximately 8% of persons are identified as having a genetic disorder before reaching adulthood. 2 Collectively, rare genetic disorders affect substantial numbers of persons. Many patients with genetic diseases are not given a specific diagnosis. The standard of practice involves the recognition of specific phenotypic or radiographic features or biopsy findings in addition to the analysis of metabolites, genomic . . .

• Publisher: Massachusetts Medical Society
• Subject: Adolescent / Alleles / Child / Child, Preschool / Children / Deoxyribonucleic acid / Diagnosis / DNA / Exome / Families & family life / Genes, Dominant / Genes, Recessive / Genes, X-Linked / Genetic Diseases, Inborn - diagnosis / Genetic Diseases, Inborn - genetics / Genetic disorders / Genetic Testing - methods / Genomes / Humans / Laboratories / Medical diagnosis / Medicine / Mutation / Patients / Phenotype / Phenotypes / Sequence Analysis, DNA - methods / Software / Young Adult