{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T12:12:12Z","timestamp":1779192732277,"version":"3.51.4"},"reference-count":32,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2016,6,30]],"date-time":"2016-06-30T00:00:00Z","timestamp":1467244800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2016,6,30]],"date-time":"2016-06-30T00:00:00Z","timestamp":1467244800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2016,9,1]]},"abstract":"<jats:p>\n                    <jats:italic toggle=\"yes\">Background and Aims:<\/jats:italic>\n                    Carrier screening for Tay-Sachs disease is performed by sequence analysis of the\n                    <jats:italic toggle=\"yes\">HEXA<\/jats:italic>\n                    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\n                    <jats:italic toggle=\"yes\">HEXA<\/jats:italic>\n                    sequence analysis in non-AJ populations.\n                    <jats:italic toggle=\"yes\">Methods:<\/jats:italic>\n                    Five hundred eight Hispanic and African American patients (516 samples) had EA of their leukocytes performed and 12 of these patients who tested positive by EA (\u201ccarriers\u201d) had subsequent\n                    <jats:italic toggle=\"yes\">HEXA<\/jats:italic>\n                    gene sequencing performed.\n                    <jats:italic toggle=\"yes\">Results:<\/jats:italic>\n                    Of the 508 patients, 25 (4.9%) were EA positive and 40 (7.9%) were inconclusive. Of the 12 patients who were sequenced, 11 did not carry a pathogenic variant and one carried a likely deleterious mutation (NM_000520.4(HEXA):c.1510C&gt;T).\n                    <jats:italic toggle=\"yes\">Conclusions:<\/jats:italic>\n                    High inconclusive rates and poor correlation between positive\/inconclusive enzyme results and identification of pathogenic mutations suggest that ethnic-specific recalibration of reference ranges for EA may be necessary. Alternatively,\n                    <jats:italic toggle=\"yes\">HEXA<\/jats:italic>\n                    gene sequencing could be performed.\n                  <\/jats:p>","DOI":"10.1089\/gtmb.2015.0302","type":"journal-article","created":{"date-parts":[[2016,6,30]],"date-time":"2016-06-30T16:35:36Z","timestamp":1467304536000},"page":"504-509","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":13,"title":["Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population"],"prefix":"10.1177","volume":"20","author":[{"given":"Nikita","family":"Mehta","sequence":"first","affiliation":[{"name":"Counsyl"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel A.","family":"Lazarin","sequence":"additional","affiliation":[{"name":"Counsyl"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica","family":"Spiegel","sequence":"additional","affiliation":[{"name":"Columbia University Medical Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen","family":"Berentsen","sequence":"additional","affiliation":[{"name":"Counsyl"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly","family":"Brennan","sequence":"additional","affiliation":[{"name":"Columbia University Medical Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Giordano","sequence":"additional","affiliation":[{"name":"Counsyl"},{"name":"Columbia University Medical Center"},{"name":"Columbia Doctors Midtown"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imran S.","family":"Haque","sequence":"additional","affiliation":[{"name":"Counsyl"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald","family":"Wapner","sequence":"additional","affiliation":[{"name":"Columbia University Medical Center"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2016,6,30]]},"reference":[{"key":"e_1_3_2_2_1","first-page":"893","article-title":"ACOG committee opinion. 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