Clinical utility and cost‐effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center

Chromosomal microarray (CMA) is now widely used as first‐tier testing for the detection of copy number variants (CNVs) and absence of heterozygosity (AOH) in patients with multiple congenital anomalies (MCA), autism spectrum disorder (ASD), developmental delay (DD), and/or intellectual disability (I...

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Veröffentlicht in:	Journal of genetic counseling 2022-04, Vol.31 (2), p.364-374
Hauptverfasser:	Su, Meng, Page, Stephanie, Haag, Mary, Swisshelm, Karen, Hennerich, Deborrah, Graw, Sharon, LeRoux, Jamie, Brzeskiewicz, Peter, Svihovec, Shayna, Bao, Liming
Format:	Artikel
Sprache:	eng
Schlagworte:	Academic Medical Centers Autism autism spectrum disorder Autism Spectrum Disorder - diagnosis Autism Spectrum Disorder - genetics Child chromosomal microarray Chromosome Aberrations chromosome analysis Chromosomes Clinical significance clinical utility Congenital defects Copy number Cost analysis Cost-Benefit Analysis cost‐effectiveness developmental delay Developmental Disabilities - genetics DNA Copy Number Variations Genetic analysis Genetic screening Genomics Health care management Heterozygosity Humans Intellectual disabilities intellectual disability Intellectual Disability - genetics Laboratories Medical diagnosis Medical schools Microarray Analysis multiple congenital anomalies Patients Postpartum period Recurrence Retrospective Studies Risk assessment Variants
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