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CHROMOSOME ANALYSIS WITH FLUORESCENCE IN SITU HYBRIDIZATION TEST FOR MICRODELETION SYNDROMES

Synonym(s):

​MICRODELETION FISH ADD-ON

Lab Section Category

Description

Indications

​This test is useful for patients suspected of Prader-Willi (PWS) / Angelman (AS), Di-George (DGS) or William (WS) syndromes.

Specimen Required

​Peripheral Blood/Amniotic Fluid/Chorionic Villi

Storage and Transport

Method

​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.

Test Results

​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.

Reference Interval / Value

​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.

Turnaround Time

​8 ~ 12 days

Day(s) Test Set up

​Monday – Saturday (office hours)

Remarks

​This FISH test is always used in conjunction with conventional cytogenetic studies. Contact the Cytogenetics Laboratory before sending a specimen.

Change History Notes

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