title: Section E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities.
abstract: These American College of Medical Genetics and Genomics standards and guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and 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 laboratory geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale 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 any particular guideline was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.Cytogenetic analyses of hematological neoplasms are performed to detect and characterize clonal chromosomal abnormalities that have important diagnostic, prognostic, and therapeutic implications. At the time of diagnosis, cytogenetic abnormalities assist in the diagnosis of such disorders and can provide important prognostic information. At the time of relapse, cytogenetic analysis can be used to confirm recurrence of the original neoplasm, detect clonal disease evolution, or uncover a new unrelated neoplastic process. This section deals specifically with the standards and guidelines applicable to chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities. This updated Section E6.1-6.4 has been incorporated into and supersedes the previous Section E6 in Section E: Clinical Cytogenetics of the 2009 Edition (Revised 01/2010), American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories.Genet Med 18 6, 635-642.
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
authors.forename: Fady M
authors.identifier: 0000-0003-3517-1902
authors.initials: FM
authors.lastname: Mikhail
authors.affiliation: Department of Pathology, The Ohio State University, Columbus, Ohio, USA.
authors.forename: Nyla A
authors.identifier: 0000-0003-4910-1083
authors.initials: NA
authors.lastname: Heerema
authors.affiliation: Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina, USA.|Department of Pathology, University of North Carolina, Chapel Hill, North Carolina, USA.|Deceased.
authors.forename: Kathleen W
authors.initials: KW
authors.lastname: Rao
authors.affiliation: Laboratory Corporation of America Holdings, Center for Molecular Biology and Pathology, Research Triangle Park, North Carolina, USA.
authors.forename: Rachel D
authors.identifier: 0000-0002-0063-2281
authors.initials: RD
authors.lastname: Burnside
authors.affiliation: Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.
authors.forename: Athena M
authors.initials: AM
authors.lastname: Cherry
authors.affiliation: Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, University of Missouri Kansas City Medical School, Kansas City, Missouri, USA.
authors.forename: Linda D
authors.identifier: 0000-0001-8401-6349
authors.initials: LD
authors.lastname: Cooley
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations; D003581:Cytodiagnosis / Q000592:standards; D020732:Cytogenetic Analysis / Q000592:standards; D005820:Genetic Testing / Q000592:standards*; D023281:Genomics / Q000592:standards; D017408:Guidelines as Topic; D019337:Hematologic Neoplasms / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007753:Laboratories / Q000592:standards; D014481:United States