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Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes

Monogenic diabetes resulting from mutations that primarily reduce insulin-secreting pancreatic β-cell function accounts for 1-2% of all cases of diabetes, and is genetically and clinically heterogeneous. Currently, genetic testing for monogenic diabetes relies on selection of the appropriate gene fo... Full description

Journal Title: Personalized medicine 2014, Vol.11 (2), p.155-165
Main Author: Johnson, Amy Knight
Other Authors: Gaudio, Daniela del
Format: Electronic Article Electronic Article
Language: English
Subjects:
Age
Quelle: Alma/SFX Local Collection
Publisher: England: Future Medicine Ltd
ID: ISSN: 1741-0541
Link: https://www.ncbi.nlm.nih.gov/pubmed/29751380
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title: Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes
format: Article
creator:
  • Johnson, Amy Knight
  • Gaudio, Daniela del
subjects:
  • Age
  • Diabetes
  • Diagnosis
  • DNA sequencing
  • Genes
  • Genetic aspects
  • Genetic counseling
  • Genetic research
  • Genetic screening
  • Genotype & phenotype
  • Hyperglycemia
  • Laboratories
  • Methods
  • Mitochondrial DNA
  • monogenic diabetes
  • Mutation
  • next-generation sequencing
  • Nucleotide sequencing
  • personalized medicine
  • sulfonylureas
ispartof: Personalized medicine, 2014, Vol.11 (2), p.155-165
description: Monogenic diabetes resulting from mutations that primarily reduce insulin-secreting pancreatic β-cell function accounts for 1-2% of all cases of diabetes, and is genetically and clinically heterogeneous. Currently, genetic testing for monogenic diabetes relies on selection of the appropriate gene for analysis based on the availability of comprehensive phenotypic information, which can be time consuming, costly and can limit the differential diagnosis to a few selected genes. In recent years, the exponential growth in the field of high-throughput capture and sequencing technology has made it possible and cost effective to sequence many genes simultaneously, making it an efficient diagnostic tool for clinically and genetically heterogeneous disorders such as monogenic diabetes. Making a diagnosis of monogenic diabetes is important as it enables more appropriate treatment, better prediction of disease prognosis and progression, and counseling and screening of family members. We provide a concise overview of the genetic etiology of some forms of monogenic diabetes, as well as a discussion of the clinical utility of genetic testing by comprehensive multigene panel using next-generation sequencing methodologies.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 1741-0541
fulltext: fulltext
issn:
  • 1741-0541
  • 1744-828X
url: Link


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descriptionMonogenic diabetes resulting from mutations that primarily reduce insulin-secreting pancreatic β-cell function accounts for 1-2% of all cases of diabetes, and is genetically and clinically heterogeneous. Currently, genetic testing for monogenic diabetes relies on selection of the appropriate gene for analysis based on the availability of comprehensive phenotypic information, which can be time consuming, costly and can limit the differential diagnosis to a few selected genes. In recent years, the exponential growth in the field of high-throughput capture and sequencing technology has made it possible and cost effective to sequence many genes simultaneously, making it an efficient diagnostic tool for clinically and genetically heterogeneous disorders such as monogenic diabetes. Making a diagnosis of monogenic diabetes is important as it enables more appropriate treatment, better prediction of disease prognosis and progression, and counseling and screening of family members. We provide a concise overview of the genetic etiology of some forms of monogenic diabetes, as well as a discussion of the clinical utility of genetic testing by comprehensive multigene panel using next-generation sequencing methodologies.
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subjectAge ; Diabetes ; Diagnosis ; DNA sequencing ; Genes ; Genetic aspects ; Genetic counseling ; Genetic research ; Genetic screening ; Genotype & phenotype ; Hyperglycemia ; Laboratories ; Methods ; Mitochondrial DNA ; monogenic diabetes ; Mutation ; next-generation sequencing ; Nucleotide sequencing ; personalized medicine ; sulfonylureas
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abstractMonogenic diabetes resulting from mutations that primarily reduce insulin-secreting pancreatic β-cell function accounts for 1-2% of all cases of diabetes, and is genetically and clinically heterogeneous. Currently, genetic testing for monogenic diabetes relies on selection of the appropriate gene for analysis based on the availability of comprehensive phenotypic information, which can be time consuming, costly and can limit the differential diagnosis to a few selected genes. In recent years, the exponential growth in the field of high-throughput capture and sequencing technology has made it possible and cost effective to sequence many genes simultaneously, making it an efficient diagnostic tool for clinically and genetically heterogeneous disorders such as monogenic diabetes. Making a diagnosis of monogenic diabetes is important as it enables more appropriate treatment, better prediction of disease prognosis and progression, and counseling and screening of family members. We provide a concise overview of the genetic etiology of some forms of monogenic diabetes, as well as a discussion of the clinical utility of genetic testing by comprehensive multigene panel using next-generation sequencing methodologies.
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