Detection of carriers in the Ashkenazi Jewish Population: An objective comparison of high-throughput genotyping versus gene-by-gene testing

Susan Klugman, Nicole Schreiber-Agus, Shivani Nazareth, Eric A. Evans

Research output: Contribution to journalArticle

3 Scopus citations


Background: High-throughput genotyping allows rapid identification of targeted mutations at a fraction of the cost of current gene-by-gene testing methodologies. An objective comparison of the two methodologies allows providers to assess the clinical validity/utility of high-throughput carrier screening and establish a comfort level with new genomic technologies. Aim: To verify that high-throughput genotyping accurately determines patient carrier status, DNA samples from previously identified carriers (n=31) of Ashkenazi Jewish genetic diseases were anonymized and submitted for retesting by high-throughput genotyping. Results: The results were 100% concordant (95% CI: 0.998-1), demonstrating that high-throughput genotyping assays accurately identify carriers of targeted mutations in the Ashkenazi Jewish population. In addition, carrier status for diseases and mutations not previously tested was uncovered using the high-throughput assay. Conclusions: High-throughput genotyping is a cost-effective and clinically valid approach to carrier screening. The use of a broader screen for Ashkenazi Jewish individuals increases the detection of carriers in this population.

Original languageEnglish (US)
Pages (from-to)763-767
Number of pages5
JournalGenetic Testing and Molecular Biomarkers
Issue number10
Publication statusPublished - Oct 1 2013


ASJC Scopus subject areas

  • Genetics(clinical)

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