Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population | Zendy

Nikita Mehta | Zendy; Gabriel A. Lazarin | Zendy; Erica Spiegel | Zendy; Kathleen Berentsen | Zendy; Kelly Brennan | Zendy; Jessica L. Giordano | Zendy; Imran S. Haque | Zendy; Ronald J. Wapner | Zendy

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Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population

Author(s) -

Nikita Mehta,

Gabriel A. Lazarin,

Erica Spiegel,

Kathleen Berentsen,

Kelly Brennan,

Jessica L. Giordano,

Imran S. Haque,

Ronald J. Wapner

Publication year - 2016

Publication title -

genetic testing and molecular biomarkers

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.405

H-Index - 47

eISSN - 1945-0265

pISSN - 1945-0257

DOI - 10.1089/gtmb.2015.0302

Subject(s) - population , genetics , biology , medicine , environmental health

Carrier screening for Tay-Sachs disease is performed by sequence analysis of the HEXA gene and/or hexosaminidase A enzymatic activity testing. Enzymatic analysis (EA) has been suggested as the optimal carrier screening method, especially in non-Ashkenazi Jewish (non-AJ) individuals, but its utilization and efficacy have not been fully evaluated in the general population. This study assesses the reliability of EA in comparison with HEXA sequence analysis in non-AJ populations.

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