Journal article
Next generation sequencing in endocrine practice
Molecular genetics and metabolism, Vol.115(2-3), pp.61-71
06/2015
DOI: 10.1016/j.ymgme.2015.05.002
PMCID: PMC4818590
PMID: 25958132
Abstract
With the completion of the Human Genome Project and advances in genomic sequencing technologies, the use of clinical molecular diagnostics has grown tremendously over the last decade. Next-generation sequencing (NGS) has overcome many of the practical roadblocks that had slowed the adoption of molecular testing for routine clinical diagnosis. In endocrinology, targeted NGS now complements biochemical testing and imaging studies. The goal of this review is to provide clinicians with a guide to the application of NGS to genetic testing for endocrine conditions, by compiling a list of established gene mutations detectable by NGS, and highlighting key phenotypic features of these disorders. As we outline in this review, the clinical utility of NGS-based molecular testing for endocrine disorders is very high. Identifying an exact genetic etiology improves understanding of the disease, provides clear explanation to families about the cause, and guides decisions about screening, prevention and/or treatment. To illustrate this approach, a case of hypophosphatasia with a pathogenic mutation in the ALPL gene detected by NGS is presented.
Details
- Title: Subtitle
- Next generation sequencing in endocrine practice
- Creators
- Gregory P Forlenza - Department of Pediatrics, Division of Pediatric Endocrinology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN 55454, USAAmy Calhoun - Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota Masonic Children's Hospital, Minneapolis, MN 55454, USAKenneth B Beckman - University of Minnesota Genomics Center, Minneapolis, MN 55455, USATanya Halvorsen - Department of Pediatrics, Division of Pediatric Endocrinology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN 55454, USAElwaseila Hamdoun - Department of Pediatrics, Division of Pediatric Endocrinology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN 55454, USAHeather Zierhut - Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN 55455, USAKyriakie Sarafoglou - Department of Pediatrics, Division of Pediatric Endocrinology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN 55454, USALynda E Polgreen - Division of Pediatric Endocrinology and Metabolism, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA 90502, USABradley S Miller - Department of Pediatrics, Division of Pediatric Endocrinology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN 55454, USABrandon Nathan - Department of Pediatrics, Division of Pediatric Endocrinology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN 55454, USAAnna Petryk - Department of Pediatrics, Division of Pediatric Endocrinology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN 55454, USA
- Resource Type
- Journal article
- Publication Details
- Molecular genetics and metabolism, Vol.115(2-3), pp.61-71
- DOI
- 10.1016/j.ymgme.2015.05.002
- PMID
- 25958132
- PMCID
- PMC4818590
- NLM abbreviation
- Mol Genet Metab
- ISSN
- 1096-7192
- eISSN
- 1096-7206
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 06/2015
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093323002771
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