Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

ConclusionsOur analysis indicates that the chip is a sensitive and specific means of carrier testing in the Hutterite population and can serve as a model for other founder populations. Hutterites, a religious isolate located in North America, have a number of genetic disorders that are unique and/or over‐represented. A diagnostic chip that simultaneously tests for 30 autosomal recessive disorders of significance to this population was developed and validated in partnership with Asper Biotech. We have determined that this diagnostic chip provides a sensitive and specific means for carrier testing and has the potential to provide information that may empower future decision making in the Hutterite community.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research

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