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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