Split-hand/foot malformation 3
Analysis ID 236
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Split-hand/foot malformation 3
OMIM %600095
Clinical information Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod. It is usually characterized by the median cleft of hands and feet, i.e. aplasia or hypoplasia of the phalanges, metacarpals, and metatarsals as well as syndactyly. SHFM3 locus duplication is a relatively frequent cause of SHFM.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes SHFM3 region (10q24)
Analysis description Analysis of a duplication in the SHFM3 region with use of MLPA method
Analysis indication Symptoms of split-hand/foot malformation
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders