Balanced rearrangement, Chromosomal microarray, genetic testing, mosaicism, UPDACMG Practice Resourcedoi:10.1038/s41436-018-0040-6Waggoner DarrelWain Karen E.Dubuc Adrian M.Conlin LauraHickey Scott E.Lamb Allen N.Martin Christa LeseMorton Cynthia C.Rasmussen KristenSchuette Jane L.Genet MedGenetics in Medicine Official Journal of the American ...
Chromosomal Microarray Analysis (CMA) testing for chromosomal and severe genetic conditions not detected by traditional chromosome analysis
Microarray testing results fall into three main categories: (i) negative (no clinically significant alteration), (ii) pathogenic (a genomic alteration known to result in a genetic condition), and (iii) "variant of unknown significance" (VUS) (a deletion/ duplication that has not previously ...
Chromosomal microarray (CMA) is currently the first-tier genetic test for patients with idiopathic neuropsychiatric diseases in many countries. Its improved diagnostic yield over karyotyping and other molecular testing facilitates the identification of the underlying causes of neuropsychiatric diseases. In thi...
testing techniques for birth defects include ultrasound exam,karyotyping analysis and FISH diagnosis.However,these technologies have significant limitations and reduce the incidence of birth defects less than 5%.The current advanced technology for prenatal genetic testing is chromosome microarray analysis(CMA)...
Chromosomal microarray analysis (CMA), also known as array CGH,is a diagnostic test that can detect clinically significantmajor chromosomal imbalances(aneuploidies)and submicroscopic (microdeletion / microduplication) copy numbervariationsthroughout the genome. ...
Chromosomal Microarray Analysis (CMA) for Developmental Delay, Autism Spectrum Disorder, Intellectual Disability (Intellectual Developmental Disorder), and Congenital Anomalies; BlueChoice Health Plan of South Carolina, Columbia (2014) Google Scholar 37 BlueCross BlueShield of Alabama Genetic Testing, Includi...
In vitro fertilization outcomes after preimplantation genetic testing for chromosomal structural rearrangements comparing fluorescence in-situ hybridization, microarray comparative genomic hybridization, and next-generation sequencing 2020, F and S Reports Show abstract Coenzyme Q10 supplementation of human oocyte ...
Chromosomal microarray analysis Cases referred for genetic evaluation of ASD, DD, ID Clinical assessment in genetics clinic -FMR1 test -Targeted gene test -Targeted CNV test Counselling Chromosome microarray (CMA) 1 CNV CNV positive >1 CNV Benign CNV filtered out by clinical labs Articles Pathogenic...
In the past decade, the products of miscarriage have been studied using chromosomal microarray (CMA) technology (array comparative genomic hybridization (a-CGH))5,8,11,12,13 and clinically relevant copy number variants (CNVs) have been reported in about 1.6–1.8% of miscarriages. CMA overcomes ...