Exostoses, multiple, type 1
Analysis ID 241
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Exostoses, multiple, type 1
OMIM #133700
Clinical information Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple foci of bony or cartilaginous changes, most numerous in the metaphyses, but also in the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes EXT1
Analysis description Sequencing of the coding region of the EXT1 gene
Analysis indication Symptoms of multiple exostoses type 1
Analysis time Appointed individually
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders