Sterile collection is essential. LiHep is the priority for cytogenetics testing. If this is not available, please contact the Cytogenetics Lab on 3163 8212 Please note that for Angelman Syndrome (AS) and Prader-Willi syndrome (PWS) diagnoses MLPA is the preferred test (EDTA). Cytogenetic FISH studies will only detect deletions of the imprinted AS/PWS critical region.
GENERAL NOTES
APPLICATION: Cytogenetic analysis is performed on peripheral blood when a constitutional karyotype abnormality is suspected, eg, Down syndrome.