Autosomal recessive spondylocostal dysostosis 1
Analysis ID 273
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Autosomal recessive spondylocostal dysostosis 1
OMIM #277300
Clinical information The spondylocostal dysostoses are a heterogeneous group of skeletal dysplasias characterized by multiple segmentation defects of the vertebrae (SDV), abnormalities of the ribs with variable points of intercostal fusion, as well as by reduction in the number of ribs. The term 'spondylocostal dysostosis' is usually applied to those phenotypes with generalized SDV and broad, symmetric thorax.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an EDTA tube; DNA sample
Analyzed genes DLL3
Analysis description Sequencing of the coding region of the DLL3 gene
Analysis indication Symptoms of spondylocostal dysostosis 1
Analysis time Appointed individually
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders