Lab Test : Fragile X Syndrome, Southern Blot

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Alternate:Fragile X DNA; Fra-X; FMR-1
Includes:N/A
Department:Molecular Genetics Lab
Phone:(937) 641-3262
SQ Code:FX
Available:Lab open Mon - Fri 7:30 AM - 4:00 PM. Specimens accepted daily, 24 hours. Specimens batched and test run weekly as needed.
Turnaround:21 days
Specimen:Blood
Volume:1 mL
Container:EDTA
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:Normal Female or Normal Male
Uses:To detect the Fragile X syndrome mutation and determine carrier status.
Limitations:This assay determines the diagnostic category (normal, carrier, affected) for the Fragile X mutation in the FMR-1 gene.
Method:Southern blot
 

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