Thrombocytopenia-absent radius syndrome (TAR syndrome)
Analysis ID 233
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Thrombocytopenia-absent radius syndrome (TAR syndrome)
OMIM #274000
Clinical information Thrombocytopenia-absent radius syndrome (TAR) is characterized by reduced number of platelets (thrombocytopenia) as well as the absence of radial bones. Presence of the thumbs is a distinctive TAR features, which helps to distinguish it from other syndromic radial ray defects.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes TAR region (1q21)
Analysis description Analysis comprise identification of a microdeletion in TAR region (1q21.1) with use of MLPA method
Analysis indication Symptoms of TAR syndrome
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders