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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Reference
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
Suggested Reading
den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, et al. HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat. 2016;37:564–9.
Russell S, Bennett J, Wellman JA, Chung DC, ZF Y, Tillman A, et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet. 2017;390:849–60.
Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of ophthalmology task force on genetic testing. Ophthalmology. 2012;119:2408–10.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer International Publishing AG, part of Springer Nature
About this chapter
Cite this chapter
Tsang, S.H., Sharma, T. (2018). Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding. In: Tsang, S., Sharma, T. (eds) Atlas of Inherited Retinal Diseases. Advances in Experimental Medicine and Biology, vol 1085. Springer, Cham. https://doi.org/10.1007/978-3-319-95046-4_52
Download citation
DOI: https://doi.org/10.1007/978-3-319-95046-4_52
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-95045-7
Online ISBN: 978-3-319-95046-4
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)