Spondyloepiphyseal Dysplasia

TEST CODE MG04770
TEST NAME Spondyloepiphyseal Dysplasia
RELATED GENE TRAPPC2
SYNONYMOUS TRAPPC2
OMIM 313400
HEREDITY X-linked Recessive
CLINICAL AREA Spondyloepiphyseal Dysplasia is an X-linked recessive disease. Mutations in the TRAPPC2 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 30 DAYS

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