Tetraamelia
Analysis ID 64
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Tetraamelia
OMIM #273395
Clinical information Tetraamelia is a congenital absence or severe hypoplasia of all four limbs. Tetraamelia may be caused by autosomal recessive mutations in the WNT3 gene.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes WNT3
Analysis description Sequencing analysis of the WNT3 gene.
Analysis indication Tetraamelia
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders