title: Technical standards and guidelines: molecular genetic testing for ultra-rare disorders.
abstract: These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These 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. In determining the propriety of any specific procedure or test, the clinical molecular geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the laboratory record the rationale for any significant deviation from these standards and guidelines.
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: Anne
authors.initials: A
authors.lastname: Maddalena
authors.forename: Sherri
authors.initials: S
authors.lastname: Bale
authors.forename: Soma
authors.initials: S
authors.lastname: Das
authors.forename: Wayne
authors.initials: W
authors.lastname: Grody
authors.forename: Sue
authors.initials: S
authors.lastname: Richards
mesh_terms: D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008967:Molecular Biology / Q000379:methods*; D011785:Quality Assurance, Health Care / Q000592:standards; D011786:Quality Control; D035583:Rare Diseases / Q000175:diagnosis* / Q000235:genetics; D012107:Research Design