Molecular Diagnosis of Genetic Diseases

Front Cover
Rob Elles, Roger Mountford
Springer Science & Business Media, 2004 - Medical - 387 pages
This completely revised and updated second edition integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
 

What people are saying - Write a review

We haven't found any reviews in the usual places.

Contents

Optimizing PCR for Clinical Diagnosis
1
Current and Emerging Techniques for Diagnostic Mutation Detection An Overview of Methods for Mutation Detection
9
Mutation Scanning for the Clinical Laboratory DHPLC
45
Mutation Scanning for the Clinical Laboratory Protein Truncation Test
67
Mutation Scanning for the Clinical Laboratory Automated Fluorescent Sequencing
81
Comparative Sequence Analysis
115
Gene Dosage Analysis by Multiplex Amplifiable Probe Hybridization
125
Prenatal Detection of Chromosome Aneuploidy by Quantitative FluorescencePCR
141
Cystic Fibrosis
221
Familial Adenomatous Polyposis
245
Multiple Endocrine Neoplasia Types 1 and 2
267
Neurofibromatosis Type 1 A Common Familial Cancer Syndrome
285
Duchenne and Becker Muscular Dystrophy
311
Spinal Muscular Atrophy
343
Quality Management in Molecular Genetics
359
Regulation of Genetic Testing in Clinical Practice
369

Fragile X Disease
157
Huntingtons Disease
183
Hematological Applications Hemoglobinopathies
203

Other editions - View all

Common terms and phrases

About the author (2004)

Elles, St. Mary's Hospital, Manchester, UK.

Bibliographic information