Spondylo Ocular Syndrome

TEST CODE MG09760
TEST NAME Spondylo Ocular Syndrome
RELATED GENE XYLT2
SYNONYMOUS XYLT2
OMIM 605822
HEREDITY Autosomal Recessive
CLINICAL AREA Spondylo Ocular Syndrome is a disease that is inherited in an autosomal recessive manner. Mutations in the XYLT2 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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