Spondyloepimetaphyseal Dysplasia
TEST CODE | MG07070 |
TEST NAME | Spondyloepimetaphyseal Dysplasia |
RELATED GENE | BGN |
SYNONYMOUS | BGN |
OMIM | 300106 |
HEREDITY | X-linked Recessive |
CLINICAL AREA | Spondyloepimetaphyseal Dysplasia is an X-linked Recessively inherited disease. Mutations in the BGN 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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