Testing

Carrier Screening Packs: An easier way to test for Tay Sachs Disease and Related Conditions

If you are Ashkenazi Jewish ancestry you can use one of our carrier screening packs to clarify your carrier status. When you use one of our packs you can choose to have carrier testing for any or all of the genetic conditions that are common to people of Ashkenazi Jewish ancestry. We test for Tay Sachs disease, cystic fibrosis, Canavan disease, familial dysautonomia, Fanconi anaemia, Niemann-Pick disease and Bloom syndrome. We test for the mutations (genetic faults) that are common among people of Ashkenazi Jewish ancestry for these conditions.

Our test will identify most Ashkenazi Jewish carriers, but cannot diagnose all carriers.

How do the packs work?

Screening is done from a painless cheekbrush sample. You collect your own sample and mail it directly to our laboratory.

What do the packs contain?

The screening packs contain an information brochure, cheekbrush, request form (which must be signed by a medical practitioner), instructions on sampling, pre-paid reply envelope and payment form.

How long does it take to get a result back?

The usual time to get a result from a cheek brush test is 3 - 6 weeks. If you require a result urgently, please call us to discuss this.

What is the cost?

Because screening is not covered by Medicare we need to charge for the testing to recover the costs of conducting the tests ($450 for all 7 conditions listed above) BUT you only need to be tested once in your lifetime. Testing is offered at a reduced price at our community screening days.

Where do you get the packs?

They are available from your obstetrician; however if your obstetrician does not have any screening packs, ask them to call us and we will supply them with packs. Alternatively, you can call us on 8341 6201 to arrange testing.