Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome
Analysis ID 41
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome
OMIM #605289
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) (exons 5-8,13,14)
Analysis description Sequencing analysis of the TP63gene
Analysis indication Symptoms of Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome, Adult Syndrome, Limb-Mammary Syndrome, Ectrodactyly-Ectodermal Dysplasia Cleft Palate Syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders