Progressive External Ophthalmoplegia, Autosomal Dominant/Recessive

TEST CODE MG09750
TEST NAME Progressive External Ophthalmoplegia, Autosomal Dominant/Recessive
RELATED GENE POLG
SYNONYMOUS POLG
OMIM 174763
HEREDITY Autosomal Recessive / Autosomal Dominant
CLINICAL AREA Progressive External Ophthalmoplegia is a disease inherited as autosomal recessive and autosomal dominant. Mutations in the POLG gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 40 DAYS

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