Synonym(s):
MICRODELETION FISH ADD-ON
This test is useful for patients suspected of Di-George (DGS) syndrome.
Peripheral Blood/Amniotic Fluid/Chorionic Villi
Long-term culture to obtain metaphases. Di-George region DNA probe labelled with fluorophores are used on interphase cells and metaphases. Analysis is performed under fluorescence microscope.
Deleted or Not Deleted or Duplicated. Nomenclature given is in accordance to the International System for Human Cytogenomic Nomenclature (ISCN, 2020). 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.
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