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Bio B2BSofiva Genomics 〉Carrier screening for fragile X syndrome

Carrier screening for fragile X syndrome

Carrier screening for fragile X syndrome

1. Accurate detection of repeat sizes with even > 900 repeats.2. High and low throughput options for cost.3. time efficient.

Request for Collaboration
Overview
Fragile X syndrome is one of the most common inherited developmental disabilities. A problem with a specific gene, FMR1 gene which is characterized by a repetitive CGG trinucleotide, causes the disease. Normally, the FMR1 gene encodes a protein called FMR1 which is needed for brain development. But once the repeat of CGG trinucleotide is too much, it will cause the loss or deficiency of the protein. DNA studies are used to test for fragile X syndrome (FXS). Genotypes of FXS can be determined by testing the size of the CGG trinucleotide repeat segment of the FMR1 gene. PCR analysis utilizes flanking primers to amplify a fragment of DNA spanning the CGG repeat region. Thus, the sizes of the PCR products are indicative of the approximate number of repeats. Direct DNA testing of the FMR1 locus allows identification of carriers of mutations in fragile X syndrome.
Application
1. Who has a family history of fragile X syndrome.
2. Who has a family history of mental retardation, developmental delay, autism, and mental illness.
3. Who has a family history of ataxia-related disease.
4. Who has high follicle stimulating hormone (FSH) and premature ovarian failure.
More Information
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