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Currents in Contemporary Bioethics

Identifying Consanguinity through Routine Genomic Analysis: Reporting Requirements

Published online by Cambridge University Press:  01 January 2021

Amy L. McGuire ,
Melody J. Wang  and
Frank J. Probst
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Extract

Increasingly, genomic analysis is being utilized to diagnose children with developmental delay or dysmorphic facial features suggestive of a congenital disorder. Genetic testing has rapidly evolved, and the genome-wide tests that we use today are significantly different from the more targeted single-gene tests of the last decade. Chromosomal microarray analysis (CMA) is now a first line test for children with multiple birth defects, children with intellectual impairment (including autism), and children with an unusual constellation of symptoms that do not fit with a known disease. There are three types of CMA that are currently clinically available. CMA by oligonucleotide array-based comparative genomic hybridization (aCGH) compares the hybridization signal from the patient's DNA to that of a reference DNA sample for each oligonucleotide on the array. Depending on the specific array, this can range from tens of thousands to hundreds of thousands of oligonucleotides.

Type
JLME Column
Information
Journal of Law, Medicine & Ethics , Volume 40 , Issue 4 , Winter 2012 , pp. 1040 - 1046
Copyright
Copyright © American Society of Law, Medicine and Ethics 2012

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