Brachydactyly, type B
Analysis ID 30
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Brachydactyly, type B
OMIM #113000
Clinical information Brachydactyly type B is an autosomal dominant disorder, and is the most severe type of brachydactyly, characterized by terminal deficiency of the fingers and toes. In the typical form of BDB, the thumbs and big toes are spared, sometimes with broadening or partial duplication.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes Exons 8 and 9 of the ROR2 gene
Analysis description sequencing analysis of the ROR2 (exons 8 and 9)
Analysis indication Brachydactyly type B
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders