Lab Test : Hereditary Hemochromatosis C282Y/H63D gene mutations

Print this page Bookmark and Share
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 mutations 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)
 

Sign up for Pediatric Link

Finding the latest trusted child health and safety information doesn't have to be hard. Pediatric Link, Dayton Children's e-newsletter offers timely and up-to-date information for health care professionals from the experts you trust at Dayton Children's.  Sign up

Upcoming Events

5k Run/Walk/Roll fundraiser for a universally accessible park

Car Seat Safety Check at Xenia Township Fire Station 51 on Brush Row Road

Car Seat Safety Check - no appointment necessary!

View full event calendarView full event calendar

The Right Experts

Just right for all kids

Accreditations

The Children's Medical Center of Dayton Dayton Children's
The Right Care for the Right Reasons

One Children's Plaza - Dayton, Ohio - 45404-1815
937-641-3000
www.childrensdayton.org