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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

        Use of trade names and commercial sources is for identification only and does not imply endorsement by the U.S. Department of Health and Human Services.


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        Date last reviewed: 5/29/2009

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