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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