Analysis ID 113
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness ADULT , ADULT SYNDROME (E5-8,13,14)
OMIM #103285
Clinical information Split hand-foot malformation syndrome (SHFM), EEC syndrome - ectrodactyly-ectodermal dysplasia cleft palate, Adult syndrome (ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME), and Limb-Mammary syndrome are autosomal dominant genetic disorders all caused by different mutations in the TP63 gene. Common symptoms include limb abnormalities, especially SHFM.
Type of analysis
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes TP63 (TP73L) (E5-8,13,14)
Analysis description Analysis of exons 5-8 and 13-14 of the TP63 gene
Analysis indication
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders