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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