Spondyloepiphyseal Dysplasia
TEST CODE | MG04770 |
TEST NAME | Spondyloepiphyseal Dysplasia |
RELATED GENE | TRAPPC2 |
SYNONYMOUS | TRAPPC2 |
OMIM | 313400 |
HEREDITY | X-linked Recessive |
CLINICAL AREA | Spondyloepiphyseal Dysplasia is an X-linked recessive disease. Mutations in the TRAPPC2 gene have been associated with the disease. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | Blood with EDTA |
QUANTITY | 3 mL |
TAT | 30 DAYS |
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