Osteopetrosis (Type AD2, AR4)

TEST CODE MG02350
TEST NAME Osteopetrosis (Type AD2, AR4)
RELATED GENE CLCN7
SYNONYMOUS CLCN7
OMIM 166600
HEREDITY Autosomal Dominant / Autosomal Recessive
CLINICAL AREA Osteopetrosis Type AD2 Autosomal Dominant and Osteopetrosis Type AR4 Autosomal Recessive are inherited diseases. Mutations in the CLCN7 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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