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February 2020 — Laboratory Genetics & Genomics

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.

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Katarzyna Thompson, Ph.D. Katarzyna Thompson, Ph.D.
Fellow, Laboratory Genetics and Genomics
Mayo Clinic
Photo of Kandelaria (Ande) Rumilla, M.D. Kandelaria (Ande) Rumilla, M.D.
Consultant, Laboratory Genetics and Genomics
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science
MCL Education

MCL Education

This post was developed by our Education and Technical Publications Team.