Rickets (Vitamin D Resistance) Type 1
TEST CODE | MG02590 |
TEST NAME | Rickets (Vitamin D Resistance) Type 1 |
RELATED GENE | CYP27B1 |
SYNONYMOUS | CYP27B1 |
OMIM | 264700 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Rickets (Vitamin D Resistance) Type 1 is an Autosomal Recessively inherited disease. Mutations in the CYP27B1 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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