A 71 yr old female with a history of a central nervous system lymphoma, an allogenic stem cell transplant and graft versus host disease was tested for hereditary hemochromatosis. DNA extracted from whole blood was tested by a multiplex PCR based assay utilizing a Mass Array platform. Molecular testing showed two copies of mutated C282Y allele, two copies of wild type H63H allele and a small fraction of wild type C282C and mutated H63D (mass spectra below). Sanger sequencing confirmed these results.
|Katarzyna Thompson, Ph.D.
Fellow, Laboratory Genetics and Genomics
|Kandelaria (Ande) Rumilla, M.D.
Consultant, Laboratory Genetics and Genomics
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science