Spondylocostal dysostosis 5

TEST CODE MG09100
TEST NAME Spondylocostal dysostosis 5
RELATED GENE TBX6
SYNONYMOUS TBX6
OMIM 602427
HEREDITY Autosomal Dominant/Autosomal Recessive
CLINICAL AREA Spondylocostal dysostosis 5 is an autosomal dominant or autosomal recessive disease. Mutations in the TBX6 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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