Sterile collection is essential. Please collect both a Lithium heparin and an EDTA if possible (However, LiHep is the priority for cytogenetics testing) 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.
