| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
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. Fellow, Laboratory Genetics and Genomics Mayo Clinic |
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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 |
