NDLI: Molecular diagnosis of neurofibromatosis type 1: 2 years experience

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Familial Cancer : Volume 5

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Familial Cancer : Volume 2

Familial Cancer : Volume 1

Molecular diagnosis of neurofibromatosis type 1: 2 years experience

Content Provider	Springer Nature Link
Author	Griffiths, Siân Thompson, Peter Frayling, Ian Upadhyaya, Meena
Copyright Year	2006
Abstract	Our experience of providing an NF1 gene diagnostic mutation detection service as part of the UK Genetic Testing Network (UKGTN) is presented. A total of 169 unrelated individuals suspected of having neurofibromatosis type I (NF1) were referred for NF1 diagnostic testing over a 2 year period. Mutation analysis of the entire NF1 coding region and the flanking splice sites was carried out, and included the use of a combination of FISH, dHPLC and MLPA. Possible disease causing mutations were identified in 109 (64%) cases. These comprised 88 different sequence alterations, of which 57 were novel. Out of the 169 cases referred, there were 102 patients with reliable clinical data, of whom 78 satisfied the NIH diagnostic criteria for NF1. Within this better defined cohort of NF1 patients, NF1 mutations were identified in 61 individuals (78%), showing the importance of clinical selection on overall test sensitivity, and highlighting the problem of full clinical data collection in the audit of routine services. As mutation detection technologies advance, facilitating direct sequencing of all coding and flanking non-coding regions of the NF1 gene, the development of an even more cost-effective, quick and sensitive diagnostic test for future testing of NF1 is discussed.
Starting Page	21
Ending Page	34
Page Count	14
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	6
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Kluwer Academic Publishers
Publisher Date	2006-08-31
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Denaturing High Performance Liquid Chromatography (dHPLC) Fluorescence In-Situ Hybridisation (FISH) Multiplex Ligation-Dependent Probe Amplification (MLPA) Mutation Neurofibromatosis Type 1 (NF1) Polymerase chain reaction (PCR) Polymorphism Sequencing UK Genetic Testing Network (UKGTN) Epidemiology Human Genetics Oncology
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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