17-Beta Hydroxysteroid Dehydrogenase 1 Deficiency

TEST CODE MG05090
TEST NAME 17-Beta Hydroxysteroid Dehydrogenase 1 Deficiency
RELATED GENE HSD17B1
SYNONYMOUS HSD17B1
OMIM 109684
HEREDITY Autosomal Recessive
CLINICAL AREA 17-Beta Hydroxysteroid Dehydrogenase 1 Deficiency is an Autosomal Recessively inherited disease. Mutations in the HSD17B1 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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