Osteopetrosis (Type AR1)
TEST CODE | MG02360 |
TEST NAME | Osteopetrosis (Type AR1) |
RELATED GENE | TCIRG1 |
SYNONYMOUS | TCIRG1 |
OMIM | 259700 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Osteopetrosis (Type AR1) is an autosomal recessively inherited disease. Mutations in the TCIRG1 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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