Analysis ID 116
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness LIMB-MAMMARY SYNDROME (entire gene)
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 molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes TP63
Analysis description Analysis of the entire coding sequence of the TP63 gene
Analysis indication
Analysis time 3-4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders