Pseudo Achondroplasia
TEST CODE | MG02560 |
TEST NAME | Pseudo Achondroplasia |
RELATED GENE | COMP |
SYNONYMOUS | COMP |
OMIM | 177170 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Pseudo Achondroplasia is an autosomal dominantly inherited disease. Mutations in the COMP 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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