Symphalangism, proximal (GDF5, NOG genes)
Analysis ID 199
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Symphalangism, proximal (GDF5, NOG genes)
OMIM #185800
Clinical information Proximal symphalangism is characterized by the fusion of proximal interphalangeal joints. Other joints that may also be affected are elbows, ankles and wrists (fusion of the carpal and tarsal bones). Conductive deafness due to the fusion of auditory ossicles may also be a feature. The condition is inherited in an autosomal dominant manner.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes NOG; GDF5
Analysis description Sequencing of the entire coding seqeunces of the NOG and GDF5 genes
Analysis indication Proximal symphalangism
Analysis time 3 - 4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders