Brachydactyly type B (genes ROR2 - exons 8 and 9, NOG - entire)
Analysis ID 198
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Brachydactyly type B (genes ROR2 - exons 8 and 9, NOG - entire)
OMIM #113000
Clinical information Brachydactyly type B is a rare genetic condition characterized by disproportionately short fingers and toes. Terminal phalanges of the second to fifth digits are usually hypoplastic or completely absent (including nails). Thumbs and halluces are never hypoplastic but frequently flattened and/or split. The feet are usually affected, however to less severe extent. Other features that may be present include webbed fingers (syndactyly) and fusion of joints (symphalangism) and bones in the hands and feet. The condition is caused by mutations in the ROR2 gene or (in rare cases) by mutations in the NOG. Most cases have been shown to be inherited in an autosomal dominant fashion.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes NOG; ROR2
Analysis description Analysis consists of sequencing of the coding region of the NOG gene and exons 8 and 9 of the ROR2 gene
Analysis indication Symptoms of brachydactyly type B
Analysis time 3 - 4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders