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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