ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

Primary-care providers’ perceived barriers to integration of genetics services: a systematic review of the literature

“…It is possible that dissemination and uptake of guidelines is incomplete given their recent development at the time of data collection. In the past 10 years, professional societies such as the American Academy of Pediatrics, 43,44 the American College of Obstetricians and Gynecologists, 45 the American Society of Clinical Oncology, 46 and the American College of Medical Genetics and Genomics 47,48 have published numerous guidelines on topics that could potentially be useful for PCPs.…”

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

“…This situation is similar to array comparative genomic hybridization (aCGH) in cytogenetics, which has become the first-tier test for evaluation of chromosomal abnormalities associated with intellectual disability (ID), autism, and multiple congenital anomalies, replacing karyotyping. 3 However, karyotyping is still needed as a complementary cytogenetic test because aCGH cannot detect certain chromosomal rearrangements, such as balanced translocations. It is therefore essential for clinicians to understand the strengths and limitations of molecular tests in order to choose the appropriate one for each patient.…”

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population

“…Molecular karyotyping has quickly been embraced as such an assay: it has revolutionized the diagnosis of unexplained neurocognitive phenotypes and has become the recommended first-tier clinical diagnostic test for these individuals. 3 It has been called an indispensable genetic analysis in the diagnosis of idiopathic (DD/ID) 4 and is likely to remain so until supplanted by the increasingly popular whole-exome/wholegenome sequencing. Unlike a regular karyotype that relies on the microscopic inspection of chromosomes, molecular karyotyping constructs virtual chromosomes based on the copy-number analysis of DNA, which improves its resolution by 100-fold.…”