Robinow Syndrome
Analysis ID 34
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Robinow Syndrome
OMIM %180700
Clinical information Robinow Syndrome is an autosomal dominant congenital disorders caused by mutations in the ROR2 gene. Main symptoms include: short stature, limb shortening, brachydactyly type B, dysmorphic face (prominent forehead, hypertelorism, short nose, low nasal bridge, anteverted nostrils, micrognathia). Some patients may have heart defect, cleft palate or genital abnormalities.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes ROR2
Analysis description Sequencing analysis of the ROR2 gene
Analysis indication Symptoms of Robinow syndrome
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders