scope:

This guideline has been revised by experienced molecular laboratory professionals to focus on germline genetic diagnostic testing. It provides information for laboratories implementing molecular assays for inherited disorders, including both distributed test systems authorized by applicable regulatory agencies and complex laboratory-developed tests (LDTs). This guideline is intended for use by experienced laboratory directors, supervisors, and manufacturers involved in assay development, validation, verification, and interpretation of molecular testing.

Because molecular diagnostics is multidisciplinary in nature, this guideline provides an overview of the subspecialties that use similar technology or performance specification details. New to this edition are clinical applications of genetic identity testing. These applications include monitoring bone marrow transplant engraftment in hematopoietic stem cell transplantation, tracing sample provenance, and detecting sample contamination. Owing to advances in preimplantation diagnostics and prenatal testing, descriptions of noninvasive and cell-free DNA (cfDNA) detection methods are included.

This guideline does not cover biochemical genetics, paternity and forensics testing, blood banking, or detection of bioterrorism agents that require biosafety levels 3 or higher.