Genetic test
Genetic test -
(1) In general. “Genetic test” means an analysis of human DNA, RNA, chromosomes, proteins, or metabolites that detects genotypes, mutations, or chromosomal changes.
(2) Genetic tests include, but are not limited to:
(i) A test to determine whether someone has the BRCA1 or BRCA2 variant evidencing a predisposition to breast cancer, a test to determine whether someone has a genetic variant associated with hereditary nonpolyposis colon cancer, and a test for a genetic variant for Huntington's Disease;
(ii) Carrier screening for adults using genetic analysis to determine the risk of conditions such as cystic fibrosis, sickle cell anemia, spinal muscular atrophy, or fragile X syndrome in future offspring;
(iii) Amniocentesis and other evaluations used to determine the presence of genetic abnormalities in a fetus during pregnancy;
(iv) Newborn screening analysis that uses DNA, RNA, protein, or metabolite analysis to detect or indicate genotypes, mutations, or chromosomal changes, such as a test for PKU performed so that treatment can begin before a disease manifests;
(v) Preimplantation genetic diagnosis performed on embryos created using invitro fertilization;
(vi) Pharmacogenetic tests that detect genotypes, mutations, or chromosomal changes that indicate how an individual will react to a drug or a particular dosage of a drug;
(vii) DNA testing to detect genetic markers that are associated with information about ancestry; and
(viii) DNA testing that reveals family relationships, such as paternity.
(3) The following are examples of tests or procedures that are not genetic tests:
(i) An analysis of proteins or metabolites that does not detect genotypes, mutations, or chromosomal changes;
(ii) A medical examination that tests for the presence of a virus that is not composed of human DNA, RNA, chromosomes, proteins, or metabolites;
(iii) A test for infectious and communicable diseases that may be transmitted through food handling;
(iv) Complete blood counts, cholesterol tests, and liver-function tests.
(4) Alcohol and Drug Testing -
(i) A test for the presence of alcohol or illegal drugs is not a genetic test.
(ii) A test to determine whether an individual has a genetic predisposition for alcoholism or drug use is a genetic test.