Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding

Stephen H Tsang; Tarun Sharma

doi:10.1007/978-3-319-95046-4_52

Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding

Adv Exp Med Biol. 2018:1085:261-268. doi: 10.1007/978-3-319-95046-4_52.

Authors

Stephen H Tsang^{1

2}, Tarun Sharma³

Affiliations

¹ Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
² Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.
³ Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA. ts3118@cumc.columbia.edu.

PMID: 30578525
DOI: 10.1007/978-3-319-95046-4_52

Abstract

Genetic testing is a medical test that studies human DNA to discover genetic changes or mutations that could lead to genetic disease. Genetic testing is performed on samples of DNA that can be obtained from blood, hair, skin, saliva, amniotic fluid, or other tissues. The test results are then sent in writing to the doctor or the genetic counsellor for discussion with the patient and the family.

Keywords: Genetic testing; Inherited retinal dystrophy.

Publication types

Review

MeSH terms

DNA
Genetic Testing*
Humans
Mutation
Retinal Dystrophies / diagnosis*
Retinal Dystrophies / genetics*

Substances

DNA