Pfeiffer Syndrome
Analysis ID 76
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Pfeiffer Syndrome
OMIM #101600
Clinical information Pfeiffer syndrome is a hereditary genetic disorder belonging to the craniosynostosis syndromes, which is characterized by premature closure of cranial sutures, brachycephaly, prominent forehead, shallow orbits, hypertelorism, and ocular abnormalities. In some patients psychomotor retardation is an additional symptom. Anomalies of the hands and feet (broad thumbs, broad great toes, brachydactyly, and variable degree of syndactyly) may also be features. The syndrome is caused by mutations in the FGFR1 or FGFR2 genes.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes FGFR2 (exons 3a, e3c)
Analysis description Sequencing analysis of the FGFR2 gene (two exons with common mutations)
Analysis indication Symptoms of Pfeiffer Syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders