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Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma
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Whole-exome sequencing: opportunities in pediatric endocrinology

Mark E Samuels1,2, Caroline Hasselmann1, Cheri L Deal1

  • 1Endocrinology Service, Department of Pediatrics, Université de Montréal & Centre de Recherche du CHU Ste-Justine, Montreal, QC, Canada.

Personalized Medicine
|May 13, 2018
PubMed

Insights

Next-generation sequencing (NGS) offers a cost-effective approach for diagnosing pediatric endocrine disorders. This technology enables comprehensive genetic analysis, improving molecular diagnosis for conditions affecting growth, metabolism, and development.

Area of Science:

  • Pediatric Endocrinology
  • Molecular Diagnostics
  • Genetics

Background:

  • Pediatric endocrinology addresses diverse disorders of growth, metabolism, bone, and sexual development.
  • Molecular diagnosis is crucial, but traditional Sanger sequencing is costly and inefficient for numerous genetic defects.
  • The limitations of gene-by-gene testing necessitate advanced diagnostic approaches.

Purpose of the Study:

  • To evaluate the utility of next-generation sequencing (NGS) technologies in pediatric endocrine diagnostics.
  • To compare different NGS formats for cost-effectiveness and clinical applicability.
  • To provide examples of NGS application in diagnosing pediatric endocrine conditions.

Main Methods:

  • Exome sequencing was utilized in a research context for clinical ascertainment of pediatric endocrine patients.
  • Comparison of various NGS formats, including whole genomes, whole exomes, and targeted gene panels.
  • Analysis of patient data to assess the diagnostic yield and feasibility of NGS.

Main Results:

  • High-throughput sequencing technologies allow cost-effective genetic analysis for pediatric endocrine patients.
  • NGS formats like exome sequencing and targeted gene panels are viable alternatives to traditional methods.
  • Successful application of NGS in identifying genetic causes of various endocrine disorders.

Conclusions:

  • Next-generation sequencing should be considered a standard component of routine clinical diagnosis for pediatric endocrine disorders.
  • NGS provides a more comprehensive and efficient molecular diagnostic strategy compared to Sanger sequencing.
  • The adoption of NGS protocols can significantly improve patient care and diagnostic accuracy in pediatric endocrinology.

Keywords:
adrenalsendocrinologyexome sequencingpituitarytargeted gene sequencingthyroid

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