Multiple Epiphyseal Dysplasia Type 5

TEST CODE MG09200
TEST NAME Multiple Epiphyseal Dysplasia Type 5
RELATED GENE MATN3
SYNONYMOUS MATN3
OMIM 607078
HEREDITY Autosomal Recessive
CLINICAL AREA Multiple Epiphyseal Dysplasia Type 5 is an autosomal dominantly inherited disease. Mutations in the MATN3 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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