Cytogenetic Tests Currently Available

Private Patients and Overseas referrals

Due to the large number of outstanding invoices for private patients and overseas referrals, the Genetics laboratory is to change the way in which it collects payment for these tests. As of the 1st December 2016, the laboratory will require payment for all private patient and overseas referrals prior to issuing a report. Due to the nature of the samples received, the laboratory will process the sample to a stage at which it can be held. The laboratory will then store the sample until payment has been received, at which point it will continue with the applicable test(s) and issue a report.

If it is a private patient referral and the patient themselves is to pay for the test, please ensure that their full contact details are provided on the referral form, and that they have completed an ‘Undertaking to pay’ form. The form is available here. When we receive the test request, a member of our admin team will then contact the patient and inform them how to contact the Private Patients office with regards to payment for the test. Payment by credit card is the preferred method, which can be done over the telephone.

For overseas referrals, please ensure that full contact details are provided for the Finance office responsible for payment, so that they may be contacted by a member of our admin team to initiate payment. Since this is a change in the way these tests are invoiced, please also ensure that they are aware of this policy and are able to facilitate payment up front for the test since patient reports will not be issued unless payment has been received. 

Fluorescence in situ hybridisation (FISH) analysis is offered as well as the full range of conventional cytogenetic staining methods. FISH tests should be specifically requested but in some cases will be carried out at the discretion of the laboratory. Please contact the laboratory for information on the availability of new tests.

FISH is currently available for suspected microdeletion syndromes including:

Rapid sex determination in neonates or amniocytes.

Rapid diagnosis of Down, Edwards and Patau syndromes in neonates or prenatally from uncultured amniocytes or fetal blood.

Diagnosis of subtle translocations and their unbalanced products.

Diagnosis of cryptic rearrangements using telomere probes.

Identification of marker chromosomes.

Array CGH is now available. Please refer to the website below for further information on abnormalities which can be detected using this technique