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Genetic laboratory techniques 

Genetic laboratory techniques
Chapter:
Genetic laboratory techniques
Author(s):

Perry Elliott

, Pier D. Lambiase

, and Dhavendra Kumar

DOI:
10.1093/med/9780198829126.003.0003
Page of

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date: 02 July 2022

A modern genomic laboratory will offer a range of diagnostic techniques. A biochemical genetic laboratory may also be based in selected centres. In this chapter, a brief account of diagnostic techniques that are useful for inherited cardiac diseases is provided. It covers variant classification and techniques that can detect DNA sequence variants, next generation sequencing, Sanger sequencing, copy number analysis (including whole genome copy number analysis), targeted dosage techniques, and known variant detection. It then gives examples of genetic laboratory reports in the context of investigating potential inherited cardiac diseases, with subsequent familial tests if required.

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