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Archives of Disease in Childhood 2006;91:357-360; doi:10.1136/adc.2005.089219
Copyright © 2006 BMJ Publishing Group Ltd & Royal College of Paediatrics and Child Health.

REVIEW

DNA analysis: what and when to request?

G Norbury1 and C J Norbury2

1 NE Thames Regional Molecular Genetics Laboratory, Camelia Botnar Laboratories, Great Ormond Street Hospital, Great Ormond Street, London, WC1N3JH, UK
2 Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK

Correspondence to:
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.

Keywords: consent; DNA storage; genetic tests; mutation analysis; newborn screening


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