Spondyloepimetaphyseal Dysplasia

TEST CODE MG07070
TEST NAME Spondyloepimetaphyseal Dysplasia
RELATED GENE BGN
SYNONYMOUS BGN
OMIM 300106
HEREDITY X-linked Recessive
CLINICAL AREA Spondyloepimetaphyseal Dysplasia is an X-linked Recessively inherited disease. Mutations in the BGN 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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