Massive parallel sequencing of dried umbilical cord remnants. Issue 11 (9th September 2020)

• Record Type: Journal Article
• Authors: Sennaiyan, Usha Nandhini; Phani, Nagaraj M; Deepak, Vuppu; Appaswamy, Giridharan; Krishna, Mani Ram
• Is Part Of: American journal of medical genetics. Volume 182:Issue 11(2020)
• Page Start: 2778
• Page End: 2780
• Publication Date: 2020-09-09
• Subjects: massive parallel sequencing -- monogenic disorders -- postmortem genetic testing; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61850
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Genetic diagnosis depends on having available tissue to test. This can be important for many reasons, such as related to familial diagnosis in the case of another pregnancy. When blood or DNA samples from affected family members are not available, accurate prenatal diagnosis may be much more difficult and hence additional effort may be needed to obtain a genetic diagnosis in such families. We report two families with suspected monogenic disorders where attempts were made to establish the genetic etiology in deceased offspring using dried umbilical cord remnants which had been preserved by the family.