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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