HSD10 Mitochondrial Disease

TEST CODE MG10740
TEST NAME HSD10 Mitochondrial Disease
RELATED GENE HSD17B10
SYNONYMOUS HSD17B10
OMIM 300438
HEREDITY X-linked Dominant
CLINICAL AREA HSD10 Mitochondrial Disease is an X-linked dominantly inherited disease. Mutations in the HSD17B10 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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