3 - Beta Hydroxysteroid Dehydrogenase Deficiency
| TEST CODE | MG03540 |
| TEST NAME | 3 – Beta Hydroxysteroid Dehydrogenase Deficiency |
| RELATED GENE | HSD3B2 |
| SYNONYMOUS | HSD3B2 |
| OMIM | 201810 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | 3 – Beta Hydroxysteroid Dehydrogenase Deficiency is an Autosomal Recessively inherited disease. Mutations in the HSD3B2 gene have been associated with the disease. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | EDTALI KAN |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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