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Chromosome Analysis -Blood (Constitutional)
Short Description : Blood Cytogenetics (Constitutional)


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


Specimen Collection

All samples for Cytogenetics must be collected using sterile technique.
Same day delivery (at room temperature).


  • Please ensure that the doctor's name and telephone locator number is written on the request form so that the requesting doctor can be contacted.
  • Clinical details are required so that the degree of urgency can be assessed and appropriate culture and analysis carried out.  Suspicion of a particular syndrome or anomaly can be vital for guiding the analysis, especially where the anomaly being sought may be miniscule. Reference ID (E.g. NHI) of other family members should be provided if this is relevant.
  • Blood samples for routine diagnostic chromosome analysis and for FISH studies should be as follows (this does not include molecular karyotype analysis, please refer to the link below):

    Adult / Paediatric:  4 mL blood in sterile heparin tube. This may be lithium or sodium heparin but must be within the expiry date on the tube. The tube should be filled as closely as possible to the recommended volume.

    Infant(up to 6 months) Foetal Cord:  1-2 mL blood (<1mL may limit the scope of testing) in a paediatric tube (this is preferable to a microtainer).

    Refer also: Constitutional chromosome analysis on Fibroblast culture (skin).

    Refer also: Molecular Karyotype analysis.


    Heparin4 mL Adult Heparin Whole Blood
    Heparin4 mL Paediatric Heparin Whole Blood
    Heparin1 mL Infant(Up to 6 months) Heparin Whole Blood
    Turnaround Time: Between 4 days and 2 weeks, 4 days

    Non-urgent cases:  18 days

    Please contact LabLink for current reporting times

    Urgent cases:  4 - 5 days (Standard Karyotype) 

    *for Rapid FISH options refer below.                   


    Specimen Transport Instructions for Referring Laboratories

    All samples for Cytogenetics must be collected using sterile technique.

    Same day delivery (at room temperature).

     



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


    Specimen Collection (refer Chromosome Analysis).

    Turnaround time: 3-5 days (Standard cultured metaphase chromosomes)
    . 1-2 weekdays (Rapid FISH Analysis- conditions apply)

     

    Standard FISH analysis on metaphase chromosomes is available with an extensive collection of commercial probes held by the Department of Diagnostic Genetics.

    Link to: FISH probe list.

     

    Rapid FISH analysis is available for urgent referrals (upon request) to detect common aneuploidy (trisomy 21,18,13 or X and Y aneuploidy) and the 22q11.2 microdeletion syndrome.  The following conditions apply to be able to meet the stated TAT.

     
    1. "Rapid FISH analysis for..."  must be clearly specified on the laboratory request form.
      .              e.g. Rapid FISH analysis for Trisomy 21
      .              e.g.  Rapid FISH analysis for 22q11.2 deletion
    2. Sample must be received by the Cytogenetics Laboratory by noon (weekdays).
      .              N.B. a same day result is possible for aneuploidy referrals (not 22q) if  the sample is received before 9am and the laboratory is notified prior to the day of collection.
    3. Patient must fit into a priority criteria (e.g. neonate, awaiting surgery), unless prior arrangement made with laboratory (refer also to the ADHB Newborn Services Clinical Guidelines ).
    4. All referrals received for aneuploidy will have a subsequent Standard Karyotype analysis result issued.


     



    Last updated at 14:39:13 20/12/2019