Ectrodactyly-Ectodermal Dysplasia Cleft Palate
Analysis ID 42
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Ectrodactyly-Ectodermal Dysplasia Cleft Palate
OMIM #604292
Clinical information Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome (Adult Syndrome), Limb-Mammary Syndrome, Ectrodactyly-Ectodermal Dysplasia Cleft Palate syndrome - all those genetic disorders have common clinical features, such as split hand and/or foot anomaly. All those malformation syndromes are caused by different mutations in the TP63 gene.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes TP63 (TP73L) (entire gene)
Analysis description Sequencing analysis of the TP63gene
Analysis indication Symptoms of SHFM
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders