November 2019 — Genetics

α-globin gene analysis testing was performed on a 30-year-old man with unknown clinical history. Gene dosage was assessed using multiplex ligation-dependent probe amplification (MLPA). Multiplex PCR and gel electrophoresis were performed to detect the common -3.7 kb and -4.2 kb deletions. The test results and location of MLPA probes within the alpha-globin gene cluster are shown below.

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Photo of Rachael A. Vaubel, M.D., Ph.D. Rachael Vaubel, M.D., Ph.D.
Senior Associate Consultant, Anatomic Pathology
Mayo Clinic
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine and Science
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

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