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American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.
- Source :
-
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2013 Feb; Vol. 15 (2), pp. 150-2. Date of Electronic Publication: 2013 Jan 17. - Publication Year :
- 2013
-
Abstract
- Genomic testing, including single-nucleotide polymorphism-based microarrays and whole-genome sequencing, can detect long stretches of the genome that display homozygosity. The presence of these segments, when distributed across multiple chromosomes, can indicate a familial relationship between the proband's parents. This article describes the detection of possible consanguinity by genomic testing and the factors confounding the inference of a specific p-arental relationship. It is designed to guide the documentation of suspected consanguinity by clinical laboratory professionals and to alert laboratories to the need to establish a reporting policy in conjunction with their ethics review committee and legal counsel.
- Subjects :
- Female
Genetic Testing methods
Genetics, Medical methods
Genetics, Medical organization & administration
Genomics methods
Genomics organization & administration
Humans
Male
United States
Consanguinity
Genetic Testing standards
Genetics, Medical standards
Genomics standards
Guidelines as Topic standards
Incidental Findings
Subjects
Details
- Language :
- English
- ISSN :
- 1530-0366
- Volume :
- 15
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Genetics in medicine : official journal of the American College of Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 23328890
- Full Text :
- https://doi.org/10.1038/gim.2012.169