Lab Test : Fragile X Syndrome, PCR

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Alternate:Fra-X; FMR-1
Department:Molecular Genetics Lab
Phone:(937) 641-3262
Available:Lab open Mon - Fri 7:30 AM - 4:00 PM. Specimens accepted daily, 24 hours. Specimens batched and test run as needed.
Turnaround:21 days
Volume:1 mL
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 and methylation status.
Limitations:This assay may not be able to detect the # of CGG repeats of high premutation alleles and cannot detect the # of repeats of full mutation alleles.
Method:Polymerase chain reaction (PCR)

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