Metaphyseal Dysplasia Schmid Type
TEST CODE | MG03870 |
TEST NAME | Metaphyseal Dysplasia Schmid Type |
RELATED GENE | COL10A1 |
SYNONYMOUS | COL10A1 |
OMIM | 156500 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Metaphyseal Dysplasia Schmid Type is an Autosomal Dominant inherited disease. Mutations in the COL10A1 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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