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Article

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

Genetic testing and molecular biomarkers - 1 Sept 2016

Mehta Nikita, Lazarin Gabriel A, Spiegel Erica, Berentsen Kathleen, Brennan Kelly, Giordano Jessica, Haque Imran S, Wapner Ronald

Abstract excerpt

BACKGROUND AND AIMS: 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...

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Source

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Identifiers

PMID: 27362553
DOI: 10.1089/gtmb.2015.0302
PMCID: PMC5314723

Genes

HEXA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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