Split-hand/foot malformation 6
Analysis ID 235
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Split-hand/foot malformation 6
OMIM #225300
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. In rare cases, the disease is autosomal recessive and is caused by Wnt10b mutations.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes WNT10B
Analysis description Sequencing of the entire coding region of the WNT10B gene
Analysis indication Split-hand/foot malformation syndrome
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders