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Test Identifier Information

Registration CodePNCF


Rapid aneuploidy screening test using fluorescence in situ hybridisation (FISH) on uncultured chorionic villus cells with probes specific for chromosomes X, Y, 13, 18 and 21. The screen detects Down, Edwards or Patau syndrome (trisomy 21, 18 or 13 respectively) or sex chromosome aneuploidy such as Monosomy X (Turner syndrome).

This test detects  70 - 80% of all chromosome abnormalities and is offered as an adjunct to routine G-Banded chromosome analysis. 


Diagnostic Use / Indications

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$699.14(Exclusive of GST)

Specimen Collection

Pre-Testing Requirements

Appropriate counselling by LMC or obstetrician.

Advanced Notice
If possible, please notify us by phone/fax if you have despatched a CVS specimen.
Out of town specimens - fax the request form ensuing the courier tracking no. is visible. This is in case a specimen fails to arrive.

Please also notify us if a CVS specimen is going to arrive out of normal working hours.

Specimen Collection Protocols

All samples should be taken in a sterile manner into a universal container with CVS transport medium (ensure expiry date is valid).

Send in "Prenatal Transport" pack (see below) as soon as possible. Delay can affect cell growth. Keep at room temperature. DO NOT FREEZE.

"Prenatal Transport" packs are available from the Cytogenetics laboratory.

Patient Sample
Chromosomes + FISH requires at least 25mg clean chorionic villi (as a guide, a 4-stranded branch of villi = approx 5mg tissue).

Unacceptable Samples
Those received without patient identifiers clearly displayed on specimen containers.
Those with unsuitable or insufficient villus material.

Patient SpecimenSee comment
Sample Delivery to LabPlease notify us by phone/fax on dispatch

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 Timewithin 5 days
Reference Interval

Comment on report


Comment on report.

Delphic Number Test Number7928

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