Genetic testing for inherited eye misalignment
نویسندگان
چکیده
منابع مشابه
Genetic testing for inherited eye disease.
T he data, devices, and molecular techniques that have become part of the practice of medicine as a result of the Human Genome Project are for most clinicians both inspiring and intimidating. While the potential for tests that can help make very accurate diagnoses of rare genetic diseases and that can identify genetic predispositions to more common ones is exciting, the translation of this conc...
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Genetic testing can make a very positive impact on individuals and families affected with inherited eye disease in a number of ways. When properly performed, interpreted, and acted on, genetic tests can improve the accuracy of diagnoses and prognoses, can improve the accuracy of genetic counseling, can reduce the risk of disease occurrence or recurrence in families at risk, and can facilitate t...
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The report by Stone et al in this issue (available at www.aaojournal.org/article/S0161-6420(17)30460-8/fulltext;) is a timely reminder of the revolution under way in molecular genetic testing for inherited retinal disease (IRD). The new approach to testing involves the use of next-generation sequencing (NGS), a term used to describe a number of different technologies that use a common strategy ...
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This volume should be available to all clinicians caring for patients with this confusing group of disorders. Hematologists, geneticists, general surgeons, and pediatricians will find it of great value. Investigators whose field of interest includes the lysosomal storage diseases and the function of lysosomal hydrolases will also find it of value, particularly from the methodological point of v...
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ژورنال
عنوان ژورنال: The EuroBiotech Journal
سال: 2017
ISSN: 2564-615X
DOI: 10.24190/issn2564-615x/2017/s1.19