SADS Foundation :: Sudden Arrhythmia Death Syndromes Foundation

The following excerpt is taken from the GeneTests Laboratory website at www.genetests.org.

What is Genetic Testing?

A genetic test is the analysis of human DNA, RNA, chromosomes, proteins or certain metabolites in order to detect alterations related to a heritable disorder. This can be accomplished by directly examining the DNA or RNA that makes up a gene (direct testing), looking at markers co-inherited with a disease-causing gene (linkage testing), assaying certain metabolites (biochemical testing), or examining the chromosomes (cytogenetic testing).

What is a Research Study?

Research studies are those in which specimens are examined for the purpose of understanding a condition better, or developing a clinical test.

Points to consider:

• Laboratories performing research testing are not subject to CLIA regulation.
• The cost of research testing is generally covered by the researcher.
• Test results are generally not given to patients or their providers. If test results are shared with the provider or patient, the laboratory must be CLIA approved. FYI, this is not always true. First, test results if disseminated are always given to the study participant, not to the provider. This is a key difference between a research test result and a clinical test. Second, Institutional
• Review Boards have granted permission for investigators to inform a study participant of his or her test result even if the laboratory is not CLIA-approved.
• Rarely, a research laboratory will, at the patient's request, share potentially useful findings with a clinical laboratory so the patient's test results can be confirmed and a formal report issued.
• Requests for participation in research may be denied, at the laboratory's discretion, if the laboratory has sufficient samples or the family does not fit the research project goals.

What is a Clinical Test?

Clinical tests are those in which specimens are examined and results reported to the medical care provider or patient for the purpose of diagnosis or treatment of an individual patient.

Points to consider:

• United States laboratories performing clinical tests must be CLIA approved.
• There is a charge for clinical tests; cost varies by complexity of the test.
• Test results are reported in writing to the referring physician ordering the test.
• The time between specimen submission and reporting of results varies between laboratories and may be based in part on the complexity of the testing.