Lab Test : Hereditary Hemochromatosis C282Y/H63D gene mutations

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Alternate:HHC; Hemochromatosis
Includes:N/A
Department:Molecular Genetics Lab
Phone:(937) 641-3262
SQ Code:HHC
Available:Lab open Mon - Fri 7:30 AM - 4:00 PM. Specimens accepted daily, 24 hours. Specimens batched and test run as needed.
Turnaround:7 days
Specimen:Blood
Volume:0.5 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:N/N genotype for each locus
Uses:To detect the C828Y and H63D mutations in the HFE gene associated with hemochromatosis, a disease characterized by excessive storage of iron in organs.
Limitations:This assay detects ONLY the C282Y and H63D mutations in the HFE gene.
Method:Polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP)
 

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