2008 Edition with upgrades through March 2007


Purpose of Guidelines
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.
Minimal Criteria
These standards establish minimal criteria for clinical genetics laboratories. Many laboratories will exceed these minimal standards.
Voluntary Adherence
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.
Acceptable Variations
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
Specialized testing, or testing that is limited to one or a few laboratories, requires appropriate and sufficient documentation of effectiveness to justify its use.
Maintenance of Guidelines
These Standards and Guidelines will be reviewed and updated periodically to assure their timeliness in this rapidly developing field.