Osteopetrosis, OSTM1
TEST CODE | MG06750 |
TEST NAME | Osteopetrosis, OSTM1 |
RELATED GENE | OSTM1 |
SYNONYMOUS | OSTM1 |
OMIM | 259720 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Osteopetrosis is an autosomal recessively inherited disease. Mutations in the OSTM1 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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