Table of Contents
Abstract
CommitteeMembership
Foreword
1Scope
2Introduction
3StandardPrecautions
4Terminology
5Nomenclature
6Safety
7PreexaminationConsiderations
8ExaminationConsiderationsandQualityControl
9PostexaminationConsiderations
10TestValidationsandCharacterization
11GeneticVariationinHumanDisease
12PrenatalTestingforHeritableDisorders
13MolecularMethods
References
AppendixA-ExampleofaFailureModesand
EffectsAnalysis
AppendixB-BayesianCalculations
AppendixC-ComparisonofMethodstoDetectSmall
GeneticVariations
AppendixD-MolecularTechnologiesNoLongerCommonlyUsed
TheQualityManagementSystemApproach
RelatedCLSIReferenceMaterials Abstract
Gives guidance for the use of molecular biological techniques for detection of mutations associated with inherited medical disorders, somatic or acquired diseases with genetic associations, and pharmacogenetic response.
