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June 12, 2009 / 58(RR06);30-32
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                                                                                        Appendix A                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                
                                                                                        Terms and Abbreviations Used In This Report                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                               
                                                                                        ABMG American Board of Medical Genetics                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                   
                                                                                        ABN Advance beneficiary notice                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                            
                                                                                        Accuracy Closeness of the agreement between the result of a measurement and a true value of the measurand                                                                                                                                                                                                                                                                                                                                                                                                                                                                                 
                                                                                        ACMG American College of Medical Genetics                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                 
                                                                                        Allele One version of a gene at a given location (locus) along a chromosome                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                               
                                                                                        AMP Association for Molecular Pathology                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                   
                                                                                        Amplicon Piece of nucleic acid formed as the product of molecular amplification                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                           
                                                                                        Amplification In vitro enzymatic replication of a target nucleic acid (e.g., polymerase chain reaction [PCR])                                                                                                                                                                                                                                                                                                                                                                                                                                                                             
                                                                                        ASR Analyte-specific reagent                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                              
                                                                                        Bidirectional sequencing A method used to determine the positions of a selected nucleotide base in a target region on both strands of a denatured duplex nucleic acid polymer                                                                                                                                                                                                                                                                                                                                                                                                             
                                                                                        CAP College of American Pathologists                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                      
                                                                                        CDC Centers for Disease Control and Prevention                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                            
                                                                                        CLIA Clinical Laboratory Improvement Amendments of 1988                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                   
                                                                                        CLIAC Clinical Laboratory Improvement Advisory Committee                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                  
                                                                                        CLSI Clinical and Laboratory Standards Institute (formerly NCCLS)                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                         
                                                                                        CMS Centers for Medicare & Medicaid Services                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                              
                                                                                        Competency assessment Evaluation of a person's ability to perform all aspects of testing, from specimen collection to result reporting                                                                                                                                                                                                                                                                                                                                                                                                                                                    
                                                                                        Control material A device, material, solution, or lyophilized preparation intended for use in the quality-control process                                                                                                                                                                                                                                                                                                                                                                                                                                                                 
                                                                                        CPT Current Procedural Terminology                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                        
                                                                                        CVS Chorionic villus sampling                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                             
                                                                                        DNA Deoxyribonucleic acid, the molecule that encodes genetic information                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                  
                                                                                        DTC Direct to consumer                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                    
                                                                                        Family history The genetic relationships and medical history of a family; also referred to as a pedigree when represented in diagram form using standardized symbols and terminology                                                                                                                                                                                                                                                                                                                                                                                                      
                                                                                        FDA Food and Drug Administration                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                          
                                                                                        Founder effect The presence of gene mutation in high frequency in a specific population that arises because the gene mutation was present in a single ancestor or small number of ancestors in the founding population                                                                                                                                                                                                                                                                                                                                                                    
                                                                                        Genetics The study of inheritance patterns of specific traits                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                             
                                                                                        Genome The complete genetic content of an organism                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                        
                                                                                        Genotype The genetic constitution of an organism or cell; also refers to the specific set of alleles inherited at a locus                                                                                                                                                                                                                                                                                                                                                                                                                                                                 
                                                                                        Germline mutation The presence of an altered gene within the egg or sperm (germ cell), such that the altered gene can be passed to subsequent generations                                                                                                                                                                                                                                                                                                                                                                                                                                 
                                                                                        Heterozygote A person with two different alleles at a particular locus, one on each chromosome of a pair, typically with one normal and one abnormal allele                                                                                                                                                                                                                                                                                                                                                                                                                               
                                                                                        HHS Department of Health and Human Services                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                               
                                                                                        HIPAA Health Insurance Portability and Accountability Act of 1996                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                         
                                                                                        Homozygote Person with two identical alleles at a particular locus, one on each chromosome of a pair                                                                                                                                                                                                                                                                                                                                                                                                                                                                                      
                                                                                        ICD International Classification of Disease                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                               
                                                                                        Informed consent process For molecular genetic testing, the process by which a person voluntarily confirms the willingness to participate in a particular test, after having been informed of all aspects of the test that are relevant to the decision to participate                                                                                                                                                                                                                                                                                                                    
                                                                                        LOD Lower limit of detection                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                              
                                                                                        Modifiers Genetic or environmental factors that might affect the expressivity (the variability of signs or symptoms that occur with a phenotype) of a genetic alteration                                                                                                                                                                                                                                                                                                                                                                                                                  
                                                                                        Mutation An alteration in a gene, which might cause a disease, be a benign alteration, or result in a normal variant                                                                                                                                                                                                                                                                                                                                                                                                                                                                      
                                                                                        Newborn screening Testing conducted within days of birth to identify infants at increased risk for specific genetic disorders, allowing education and counseling for parents and treatment for patients to be initiated as soon as possible                                                                                                                                                                                                                                                                                                                                               
                                                                                        NTC No-template control                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                   
                                                                                        Pedigree A diagram using standard symbols and terminology to indicate the genetic relationships and medical history of a family                                                                                                                                                                                                                                                                                                                                                                                                                                                           
                                                                                        Penetrance The proportion of persons with a mutation causing a particular disorder who exhibit clinical symptoms of the disorder                                                                                                                                                                                                                                                                                                                                                                                                                                                          
                                                                                        Personalized medicine Approach to medicine involving use of genomic and molecular data to better target health care, facilitate discovery and clinical testing of new products, and determine patient risk for a particular disease or condition                                                                                                                                                                                                                                                                                                                                          
                                                                                        Phenotype The observable physical and biochemical traits resulting from of the expression of a gene; the clinical presentation of a person with a particular genotype                                                                                                                                                                                                                                                                                                                                                                                                                     
                                                                                        Polymerase chain reaction (PCR) A DNA amplification procedure that produces millions of copies of a short segment of DNA through repeated cycles of 1) denaturation, 2) annealing, and 3) elongation; a very common procedure in molecular genetic testing used to generate a sufficient quantity of DNA to perform a test (e.g., sequence analysis or mutation scanning) or as a test itself (e.g., allele-specific amplification or trinucleotide repeat quantification)                                                                                                                
                                                                                        Positive predictive value The likelihood that a person with a positive test result actually has a particular gene, is affected by the gene, or will develop the disease                                                                                                                                                                                                                                                                                                                                                                                                                   
                                                                                        Precision Closeness of agreement between independent test results obtained under stipulated conditions                                                                                                                                                                                                                                                                                                                                                                                                                                                                                    
                                                                                        Private mutation A rare, disease-causing mutation occurring in a few families                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                             
                                                                                        Proficiency testing An external quality assessment program in which samples are periodically sent to testing sites for analysis                                                                                                                                                                                                                                                                                                                                                                                                                                                           
                                                                                        Quality assessment A group of activities to monitor and evaluate the entire testing process; used to help ensure that test results are reliable, improve the testing process, and promote good quality testing practices                                                                                                                                                                                                                                                                                                                                                                  
                                                                                        Quality control Measures taken to detect, reduce, and correct deficiencies in a laboratory's internal analytical process prior to the release of patient results and to improve the quality of the results reported by the laboratory                                                                                                                                                                                                                                                                                                                                                     
                                                                                        Reagent A substance that produces a chemical or biological reaction with a patient specimen, allowing detection or measurement of the analyte for which the test is designed                                                                                                                                                                                                                                                                                                                                                                                                              
                                                                                        Reference interval Interval between and including the lower reference limit through the upper reference limit of the reference population (e.g., 95% of persons presumed to be healthy [or normal])                                                                                                                                                                                                                                                                                                                                                                                       
                                                                                        Reportable range The range of test values over which the relationship between the instrument, kit, or measurement response of the system is shown to be valid                                                                                                                                                                                                                                                                                                                                                                                                                             
                                                                                        RNA Ribonucleic acid                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                      
                                                                                        SACGHS Secretary's Advisory Committee on Genetics, Health, and Society                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                    
                                                                                        Sequencing A procedure used to determine the order of nucleotides (base sequence) in a DNA or RNA molecule or the order of amino acids in a protein                                                                                                                                                                                                                                                                                                                                                                                                                                       
                                                                                        Targeted mutation analysis Testing for one or more specific mutations                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                     
                                                                                        Total testing process Series of activities or workflow for performing testing; includes three major phases: preanalytic, analytic, and postanalytic                                                                                                                                                                                                                                                                                                                                                                                                                                       
                                                                                        Unidirectional workflow The manner in which testing personnel and patient specimens move through the molecular amplification testing process to prevent cross-contamination                                                                                                                                                                                                                                                                                                                                                                                                               
                                                                                        Variant Any heritable change in DNA sequence                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                              
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                                                                                          Date last reviewed: 5/29/2009                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                           
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