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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