These voluntary standards have been established as an educational resource to assist medical geneticists in providing accurate and reliable diagnostic genetic laboratory testing consistent with currently available technology and procedures in the areas of clinical cytogenetics, biochemical genetics and molecular diagnostics.
 

These standards establish minimal criteria for clinical genetics laboratories. Many laboratories will exceed these minimal standards.
 

Adherence to these Standards and Guidelines is completely voluntary and does not necessarily assure a successful outcome. The Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results.
 

It is acknowledged that numerous acceptable variations exist in genetic testing methodologies. The accuracy and dependability of all procedures should be documented in each laboratory. This should include in-house validation and/or references to appropriate published literature.
 

Specialized testing, not available to all laboratories, requires appropriate and sufficient documentation of effectiveness to justify its use.
 

These Standards and Guidelines have been developed and endorsed by the American College of Medical Genetics. In determining the propriety of any specific procedure or test, the medical geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Medical geneticists are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date these Standards and Guidelines were adopted, and to consider other medical and scientific information that becomes available after that date.
 

These Standards and Guidelines will be reviewed and updated periodically to assure their timeliness in this rapidly developing field.