Multiple Epiphyseal Dysplasia Type 6
TEST CODE | MG08800 |
TEST NAME | Multiple Epiphyseal Dysplasia Type 6 |
RELATED GENE | COL9A1 |
SYNONYMOUS | COL9A1 |
OMIM | 614135 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Multiple Epiphyseal Dysplasia Type 6 is an Autosomal Dominant inherited disease. Mutations in the COL9A1 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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