Brachydactyly, type C
Analysis ID 29
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Brachydactyly, type C
OMIM #113100
Clinical information Brachydactyly type C (BDC) comprises shortening of the fingers 2, 3, and 5 (due to the shortening of the middle phalanges). The defect can be accompanied with symphalangism. BDC is caused by mutation of GDF5 or BMPR1B genes.
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
Analysis indication Brachydactyly C
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders