Chondrodysplasia, Grebe type
Analysis ID 38
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Chondrodysplasia, Grebe type
OMIM #200700
Clinical information Chondrodysplasia, Grebe type is a rare genetic disorder, caused by autosomal recessive (rarely dominant) mutations in the GDF5 gene (different name: CDMP1). In this syndrome severe limb shortening is observed. Height of the patient is reduced to such extent that usually does not exceed 100 cm. Metacarpals, metatarsals and digital bones are shortened and hypoplastic.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes GDF5
Analysis description Sequencing analysis of the GDF5 gene
Analysis indication Clinical symptoms of Chondrodysplasia, Grebe type
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders