CLIA– Clinical Laboratory Improvement Amendments of 1988;  These are federally mandated regulations that include quality standards applicable to all U.S. facilities or sites that test human specimens for health assessment or to diagnose, prevent or treat disease.

CAP – College of American Pathologists; This is the “gold standard” for laboratory accreditation worldwide.  On-sight inspections are performed by experienced, practicing laboratory professionals.  CAP accreditation establishes standards well beyond minimum regulatory compliance.

Gene – This consists of a linear ordered sequence of base pairs along a section of the DNA that codes for a specific characteristic of the individual.  A gene normally contains the information the body needs to produce a particular protein that has a function in the body.

Phenotype – The expression of genetic information in the appearance and characteristics of an individual or in how the body handles various biochemical processes.

Mutation – A change in the normal sequence of base pairs in a gene in the DNA

Base Pair – The complementary bases, attached to the backbone of the DNA and to each other by weak hydrogen bonds.  Each base pair makes up one “rung of the DNA ladder.” A human has over three billion base pairs in each cell of the body.

Pharmacokinetics – This consists of the manner in which the body absorbs, distributes, metabolizes and excretes medications.

Allele – Alternate form of a gene located on a specific chromosome

Chromosome – Linear bodies in the cell nucleus containing most or all genes of the organism

Deletion – Absence of a section of genetic material from a gene or absence of one or more entire genes from a chromosome

Duplication – Part of a chromosome in which the genetic material, including an entire gene or genes, is repeated; process of forming a duplication

Expression – Detectable effect of a gene, usually manifested by the amount and/or type of protein

Gene – Functional unit of heredity occupying a specific locus on a chromosome; capable of reproducing itself exactly at each cell division; directs formation of an enzyme or other protein

Genotype – Genetic constitution of an individual gene; may reflect a single nucleotide polymorphism, mutation, or series of variants

Haplotype – Group of genetic variants from one or more genes (eg, of the major histocompatibility complex) located on a single chromosome that are closely enough linked to usually be inherited as a unit or characteristic pattern

Heterozygote (HET) – Having the two genes at corresponding loci on homologous chromosomes different for one or more loci; two different copies

Homozygote – Having the two genes at corresponding loci on homologous chromosomes identical for one or more loci; two identical copies

Insertion – Section of genetic material inserted into an existing gene sequence

Linkage – Relationship between genes on the same chromosome that causes them to be inherited together

Metabolizers

•   Poor metabolizer – lacking or near total lacking capacity to metabolize a substrate through a specific
pathway
•   Intermediate metabolizer – less than normal capacity to metabolize a substrate through a specific pathway
•   Ultra-rapid metabolizer – enhanced capacity to metabolize a substrate through a specific pathway
•   Extensive metabolizer – normal population-based capacity to metabolize a substrate through a specific
pathway

Mutant (MUT) – Change in hereditary material involving either a physical change in chromosome relations or a biochemical change in the codons that make up genes that are associated with a phenotype

Phenotype – Observable properties of an organism that are produced by the interaction of the genotype and the environment

Single nucleotide polymorphism (SNP) – Naturally occurring substitution of a single nucleotide at a given location in the genome of an organism, often resulting in phenotypic variability

Variant – Exhibiting variation or diversity, either genotypically or phenotypically

Wild-type – Phenotype, genotype, or gene that predominates in a natural population of organisms or strain of organisms in contrast to that of mutant forms