CLSI MM1 A2 : 2ED 2006

Abstract
Committee Membership
Foreword
1 Scope
2 Introduction
   2.1 Diagnostic Utility
   2.2 Ethical Considerations
   2.3 Confidentiality
   2.4 Special Situations
3 Terminology
   3.1 Definitions
   3.2 Acronyms/Abbreviations
4 Nomenclature
   4.1 Nomenclature for Designation of Mutations
   4.2 Human Pedigree Nomenclature
5 Safety
   5.1 Standard Precautions
   5.2 Biological Hazards
   5.3 Chemical Hazards
   5.4 Radiation Hazards
   5.5 Ultraviolet Light Hazards
   5.6 Electrical Hazards
6 Intake Information
   6.1 Family History and Clinical Data
   6.2 Informed Consent
7 Specimen Identification and Accessioning
   7.1 Specimen Types
   7.2 Specimen Identification
   7.3 Requisition Forms
   7.4 Criteria for Rejecting Specimens
   7.5 Accessioning Specimens
   7.6 Specimen Transport and Storage
   7.7 Storage of Nucleic Acids
   7.8 Specimen Retention
8 Prenatal Testing
   8.1 Specimen Types
   8.2 Shipping
   8.3 Information Required
   8.4 Sample Processing
   8.5 Maternal Cell Contamination
   8.6 Reporting
   8.7 Quality Assurance
9 Mutation Detection and Characterization
   9.1 Deletion Detection
   9.2 Point Mutation Detection
   9.3 Short Tandem Repeats and Triplet Repeats
   9.4 Unknown or Not Yet Sequenced Mutations
10 Southern Analysis
11 Nucleic Acid Amplification Technologies
   11.1 Polymerase Chain Reaction (PCR)
   11.2 Real-Time Polymerase Chain Reaction (RT-PCR)
   11.3 FEN-1 DNA Polymerase-Based Amplification
   11.4 Oligonucleotide Ligation Assay (OLA)
   11.5 Oligonucleotide Hybridization
   11.6 Tetra-Primer Amplification Refractory Mutation
        System-Polymerase Chain Reaction (Tetra-Primer
        ARMS-PCR)
   11.7 Multiplex Genotyping by ASPE on Universal Arrays
12 Controlling False-Positive Nucleic Acid Target
   Amplification Reactions
   12.1 Reagents and Solutions
   12.2 Pipettors
   12.3 Laboratory Practices
   12.4 Selection and Preparation of Controls
   12.5 Laboratory Design
   12.6 Amplification Product Inactivation Methods
13 Detection Formats
   13.1 Gel Electrophoresis
   13.2 Solid Phase Array (Blots, Wells, Beads)
   13.3 DNA Sequencing
   13.4 Diagnostic Arrays
14 Test Validation and Characterization
   14.1 Characterize the Target Locus/Allele/Mutation
        Being Detected by the Test
   14.2 Method/Procedure Validation
   14.3 Assess Performance Properties of the Test
   14.4 Limitations
   14.5 Test Results
   14.6 Verification of Established Procedure
15 Quality Assurance/Quality Control
   15.1 Test Reagents/Reagent Quality Control Program
   15.2 Equipment Calibration and Maintenance
   15.3 Internal and External Quality Controls-Proficiency
        Testing
   15.4 Positive Controls
16 Laboratory Results Reporting
   16.1 Confidentiality/Privacy
   16.2 Records
   16.3 Reports
References
Additional References
Summary of Consensus/Delegate Comments and Committee Responses
The Quality System Approach
Related CLSI/NCCLS Publications

Provides guidance for the use of molecular biological techniques for clinical detection of heritable mutations associated with genetic disease.