MICRODELETION FISH ADD-ON
This test is useful for patients suspected of Prader-Willi (PWS) / Angelman (AS), Di-George (DGS) or William (WS) syndromes.
Peripheral Blood/Amniotic Fluid/Chorionic Villi
Long-term culture to obtain metaphases. Probes used for metaphase and interphase FISH (PWS/AS, DGS or WS region DNA probes) are labelled with fluorophores and analysed under fluorescence microscopy.
Deleted or Not Deleted or Duplicated. Nomenclature given is in accordance to the International System for Human Cytogenomic Nomenclature (ISCN, 2016). Concurrent interphase FISH will detect duplication of that gene of interest.
Individuals with a microdeletion will show two copies of the internal control signals but only one copy of the locus-specific signal for that region of interest.
8 ~ 12 days
Monday – Saturday (office hours)
This FISH test is always used in conjunction with conventional cytogenetic studies. Contact the Cytogenetics Laboratory before sending a specimen.