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Test Identifier Information

Registration CodeCTGN

Rapid aneuploidy screening test using fluorescence in situ hybridisation (FISH) on uncultured nuclei and probes specific for chromosomes X, Y, 13, 18 and 21.

Detects Down, Edwards or Patau syndrome (trisomy 21, 18 or 13) or sex chromosome aneuploidy.

Diagnostic Use / Indications

Rapid prenatal FISH analysis for aneuploidy will detect only 70 - 80% of all chromosome abnormalities. This screening test is offered as an adjunct to routine G-Banded chromosome analysis (see Chromosome analysis, amniotic fluid

Referrals are funded for:

o    Fetal abnormalities detected on ultrasound scan 

o    Maternal screening (serum or NIPS) risk is >1:50

  • Parent carries a chromosome translocation involving chromosomes 13 or 21 (e.g. Robertsonian translocation)

o    Previous child or pregnancy with Down, Edwards or Patau syndrome (trisomy 21, 18 or 13)

For all other referral categories, there will be a direct charge to the patient. Please ensure payment is sent with the specimen. Cheques should be made payable to Canterbury Health Laboratories.

External Price$732.75(Exclusive of GST)

Specimen Collection

Pre-Testing Requirements

Appropriate counselling by LMC or obstetrician.


Specimen Collection Protocols

3-4 mL of amniotic fluid is required for FISH in addition to that taken for routine chromosome analysis. This test is not suitable for heavily blood stained samples. For moderately blood stained samples please call laboratory to discuss.

Collect 17-20 mL of sterile amniotic fluid into a sterile universal container. Clearly label with a minimum of two patient identifiers.

Send to laboratory in 'Prenatal Transport' pack as soon as possible, delay can affect reporting time. Keep at room temperature - do not refrigerate or freeze.

'Prenatal Transport' packs are available by phoning the Cytogenetics laboratory.

Patient Specimensee comment
Sample Delivery to LabPlease notify us on dispatch of amniotic fluid specimen

CHLabs Laboratory

DepartmentHaematology - Cytogenetics
Contact Details Email Email
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Contact Phone Number03 364 1425
Test AvailabilityMon-Fri, business hrs. All prenatal requests deemed urgent.
Turnaround Time2 -5 days. See additional information
Reference Interval

Comment on report


Comment on report.

Additional Information

Specimens received Mon, Tues, Wed and before 3pm Thurs - within 2 days.
Specimens received at all other times - within 5 days.

Inadequate specimens will result in a delayed result.

Delphic Number Test Number7738

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