Analysis ID 117
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness LIMB-MAMMARY SYNDROME (E5-8,13,14)
OMIM #603543
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 molekularne
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 the (TP73L) (E5-8,13,14)
Analysis indication
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders