Article Text

PDF
DNA analysis: what and when to request?
  1. G Norbury1,
  2. C J Norbury2
  1. 1NE Thames Regional Molecular Genetics Laboratory, Camelia Botnar Laboratories, Great Ormond Street Hospital, Great Ormond Street, London, WC1N3JH, UK
  2. 2Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK
  1. Correspondence to:
    G Norbury
    NE Thames Regional Molecular Genetics Laboratory, Camelia Botnar Laboratories, Great Ormond Street Hospital, Great Ormond Street, London, WC1N3JH, UK; NorbuG{at}gosh.nhs.uk

Abstract

Over the last 15 years genetic testing by DNA analysis has expanded enormously both in volume and range due to advances in scientific knowledge and analytical technology. This type of analysis has the potential to provide rapid, cost effective, and accurate diagnostic information but also has its limitations. Some of the changes detected may be of ambiguous consequence and as the knowledge base expands so too does the recognition that other factors can influence the clinical picture. In many cases outcomes may be predicted only on a statistical basis rather than individually. Careful attention should therefore be given to the clinical question that is being addressed before such testing is requested.

  • consent
  • DNA storage
  • genetic tests
  • mutation analysis
  • newborn screening

Statistics from Altmetric.com

Footnotes

  • Competing interests: none declared

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.