Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening

Genet Med. 2018 Mar;20(3):374-375. doi: 10.1038/gim.2017.174. Epub 2017 Oct 26.

Authors

Aarti Ramdaney¹, Diane M Dunn², Robert B Weiss², Nancy C Rose³

Affiliations

¹ Department of Obstetrics, Gynecology and Reproductive Sciences, University of Texas Medical School at Houston, Houston, Texas, USA.
² Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA.
³ Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah, USA.

PMID: 29261181
DOI: 10.1038/gim.2017.174

No abstract available

Publication types

Case Reports
Research Support, N.I.H., Extramural

MeSH terms

Adult
Female
Genetic Carrier Screening* / methods
Genetic Carrier Screening* / standards
Genetic Counseling* / methods
Genetic Variation*
Humans
Muscular Dystrophy, Duchenne / diagnosis
Muscular Dystrophy, Duchenne / genetics
Prenatal Diagnosis