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Molecular Cytogenetics (FISH)

Test performed by: LabPLUS - Dept. Diagnostic Genetics - Cytogenetics

Results or General Enquiries : use ward computer or contact Lablink : ext 22000, DDI (09) 307-8995 or 0800 522 7587.

Other contacts: Section Leader: Liang Tao Zhang ext 22007, Technical Specialist:  Lisa Duffy  ext 22007.

Turnaround time is dependent on the type of test being requested. As a general guideline:

  • Prenatal aneuscreen samples are available within two working days.
  • HER2 samples are available within five working days (urgent Her2 cases may be prioritised if required).
  • Other cases can generally be completed within seven working days, although HGSA guidelines allow 18 days for completion.

  • Use the link below to view all currently available FISH probes.

    FISH probe list

    Specimen Collection

  • Please ensure that a telephone or locator number is written on the request form so that the requesting doctor can be contacted.
  • Clinical details are required in order to establish the appropriate testing strategy for the patient, and to enable the report/s to be cross referenced to other tests that have been performed.
  • Specimen Requirements for Formalin Fixed Paraffin Embedded (FFPE) Tissues:

    Requests for FISH testing can be made using the Diagnostic Genetics request form found on the Lab Plus website and Test Guide.

    6 x slides of ~4 um thickness p araffin embedded tissue. 

    1 x H&E stained slide with the area of interest marked.

    All specimens should be processed through a Histopathology laboratory.


    All specimens sent must be accompanied by the following:

    • Two forms of matching identification on both the slides and the form .
      If these do not match, LabPlus policy requires a specimen labelling error form to be sent to the clinician,
      and although the specimen may be processed, a result will not be released until the form is received back.

    • A marked H+E slide with the area/s to be targeted
      If multiple areas are targeted, please indicate whether they need to be analyzed separately.

    • A copy of the histology report

    • Additional relevant information .
      This includes whether the specimen has been decalcified or has undergone additional histological processing,
      areas of different morphology within the tumour sample, and the presence of more than one tumour within the sample.

    Failure to include relevant information may result in a reporting delay, as consultation with LabPlus pathologists may be required.

    See also HER-2 FISH breast cancer

    See also POC Chromosome analysis

    Specimen Requirements for Analysis on NON-formalin fixed paraffin embedded tissue:

    Requests for FISH testing can be made using the Diagnostic Genetics request form found on the Lab Plus website and Test Guide.

    Please refer to the relevant links below for the following specimen types:

    • Amniotic Fluid or Chorionic Villus specimen

    • Peripheral and Cord blood specimens

    • Bone Marrow Aspirate, Bone Marrow Trephine, Unstimulated peripheral blood specimen OR Solid Tumour Biopsy

    See Chromosome Analysis - Amniotic Fluid and Chorionic Villus specimens

    See Chromosome Analysis - Blood

    See Chromosome Analysis - Bone Marrow

    See Chromosome Analysis - Solid Tumours


    Fluorescence in situ hybridization (FISH) is a powerful tool for the rapid detection of specific chromosome abnormalities which are otherwise undetectable or difficult to characterize by conventional cytogenetic methods. It represents a type of genetic testing called molecular cytogenetics, combining the ability to identify a specific gene or gene locus(molecular) with direct visualization of the cells and/or chromosomes under a fluorescence microscope (cytogenetics).


    FISH testing has a wide range of applications due to the use of probes on a variety of different tissue types. FISH, unlike conventional cytogenetics, can be applied to uncultured cells in interphase to identify chromosome abnormalities. Therefore, it can be used on products of conception tissues, fixed tissues, differentiated cells, paraffin embedded sections, or other specimens which may not be successfully grown in culture.
    General uses of FISH include:

    1. Postnatal testing:

    Refer also: Chromosome Analysis-Blood

    2. Prenatal testing:

    Interphase FISH can be used for prenatal diagnosis of suspected aneuploidy.

    Refer Also: Chromosome Analysis-Prenatal

    3. Haematology and Oncology testing:

    FISH is used in cancer cytogenetics for the diagnosis and monitoring of haematological disorders and in the diagnosis of solid tumours.  Its uses include:

    4.  FISH probes applied to formalin fixed paraffin embedded tissue.

    Paraffin embedded tissue FISH (PET-FISH) is generally used for solid tumour and products of conception specimens, where tissues fails to grow or there is insufficient or unsatisfactory tissue available for G-banding or routine FISH analysis. 

    PET-FISH allows:

    See other tests and specimen requirements under Cytogenetics.

    Cytogenetics Information Page

    Last updated at 14:02:47 31/08/2018