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Array‐based genomic analysis is a gold standard for the detection of copy number variations (CNVs) as an important source of benign as well as pathogenic variations in humans. The introduction… Click to show full abstract
Array‐based genomic analysis is a gold standard for the detection of copy number variations (CNVs) as an important source of benign as well as pathogenic variations in humans. The introduction of chromosomal microarray (CMA) has led to a significant leap in diagnostics of genetically caused congenital malformations and neurodevelopmental disorders, with an average diagnostic yield of 15%. Here, we present our experience from a single laboratory perspective in four years’ postnatal clinical CMA application.
Keywords:
neurodevelopmental disorders;
microarray postnatal;
postnatal diagnosis;
chromosomal microarray;
congenital anomalies;
diagnosis congenital
Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2022
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Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!