|Department:||Molecular Genetics Lab|
|Available:||Lab open Mon - Fri 7:30 AM - 4:00 PM. Specimens accepted daily, 24 hours. Specimens batched and test run as needed.|
|Temperature:||Room temperature for not more than 24 hours. Can be stored at 4 degrees C for 1 week.|
|Rejection:||Will attempt to extract DNA and perform assay if hemolysis or clotting are present or if blood is in a preservative other than EDTA.|
|Normal:||# CGG < 45|
|Uses:||To detect the # of CGG repeats in the FMR-1 gene plus or minus 3 repeats. Southern blot assay should be done first to establish a diagnostic category.|
|Limitations:||This assay may not be able to detect the # of repeats of high premutation alleles and cannot detect the # of repeats of full mutation alleles.|
|Method:||Polymerase chain reaction (PCR)|
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