Spondyloepiphyseal Dysplasia Omani Type
TEST CODE | MG09050 |
TEST NAME | Spondyloepiphyseal Dysplasia Omani Type |
RELATED GENE | CHST3 |
SYNONYMOUS | CHST3 |
OMIM | 603799 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Spondyloepiphyseal Dysplasia Omani Type is an Autosomal Recessively inherited disease. Mutations in the CHST3 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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