Spondyloepiphyseal Dysplasia Tarda

TEST CODE MG08980
TEST NAME Spondyloepiphyseal Dysplasia Tarda
RELATED GENE WISP3
SYNONYMOUS WISP3
OMIM 603400
HEREDITY Autosomal Recessive
CLINICAL AREA Spondyloepiphyseal Dysplasia Tarda is an autosomal recessive disease. Mutations in the WISP3 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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