CHROMOSOME ANALYSIS WITH FLUORESCENCE IN SITU HYBRIDIZATION TEST FOR MICRODELETION SYNDROMES

Synonym(s):

MICRODELETION FISH ADD-ON

Lab Section Category

Cytogenetics - PP FISH

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Indications

This test is useful for patients suspected of Di-George (DGS) syndrome.

Specimen Required

Peripheral Blood/Amniotic Fluid/Chorionic Villi

Method

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.

Test Results

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.

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

08 Dec 2015 12:30 AM

Updated Turnaround Time: 8 ~ 12 days

06 Jul 2017 2:50 AM

Updated the test result for ISCN, 2013 to ISCN, 2016

11 May 2022 8:25 AM

Updated Indications: from William (WS) syndromes to Williams-Beuren (WBS) syndromes

11 May 2022 8:25 AM

Updated the test result from ISCN, 2016 to ISCN, 2020

15 Oct 2024 7:30 AM

FISH probes for Prader-Willi (PWS)/Angelman (AS) and Williams-Beuren (WBS) syndromes are not available.

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