Multiple Epiphyseal Dysplasia Type 7
TEST CODE | MG05190 |
TEST NAME | Multiple Epiphyseal Dysplasia Type 7 |
RELATED GENE | CANT1 |
SYNONYMOUS | CANT1 |
OMIM | 617719 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Multiple Epiphyseal Dysplasia Type 7 is an Autosomal Recessively inherited disease. Mutations in the CANT1 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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