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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