January 2020 — Laboratory Genetics and Genomics

By MCL Education • January 14, 2020

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A 19 year old female with a complex phenotype suggestive of a mitochondrial disorder had mitochondrial DNA sequencing performed three times at an outside institution, all with inconclusive results due to “multiple heteroplasmic positions”. Mitochondrial genome sequencing was performed here revealing 6 benign homoplasmic and 21 benign variants at 10-20% heteroplasmy. When variants are stratified by frequency, this patient appears to have two distinct haplogroups (Figs A-B). Normally individuals have only one haplogroup, which is maternally inherited.

	Jaime Lopes, Ph.D. Fellow, Laboratory Genetics and Genomics Mayo Clinic
	Linda Hasadsri, M.D., Ph.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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This post was developed by our Education and Technical Publications Team.