Expanded Carrier Screening

Preconception and Prenatal Carrier Testing

Some genetic conditions follow what is known as autosomal recessive inheritance. For a child to be born with an autosomal recessive condition, they need to have inherited one faulty copy of a gene from each parent. As all of our genes come in pairs, a person who has one faulty copy and one working copy of a gene for a recessive condition is called a carrier. That is, they carry the altered copy of the gene, however usually the display no symptoms of this condition. All of us are carriers for multiple different autosomal recessive conditions. When we have children, if we are not related to our partner (for example, cousins) the chance that both parents will be a carrier of the same condition is low.

However, when a child is born with an autosomal recessive condition, they are usually the first person in their family to have this condition. Various guidelines recommend that women be offered carrier screening. This is an option available to couples, either before their first pregnancy, early in a pregnancy or before embarking on another pregnancy.

Insight Genomica’s first choice for expanded carrier screening includes screening for 287 different genetic conditions, but most importantly it includes Cystic Fibrosis, Fragile X and Spinal Muscular Atrophy, the most common recessive conditions seen.

If a couple is found to both be carriers of the same condition, they will have a 1 in 4 or 25% chance of having an affected child. The couple would then have the choice of utilizing IVF techniques or other prenatal testing options to either test for an affected pregnancy or ensure having an unaffected pregnancy.

Our program includes:

  • Initial appointment either in our rooms or via skype / facetime / zoom / telephone plus all follow up appointments relating to this initial appointment
  • Analysis of both you and your partner’s medical histories and family trees
  • A detailed description of preconception or prenatal expanded carrier genetic testing options available at initial appointment followed by a thorough explanation of results at the subsequent consultation
  • Advice regarding pregnancy supplements and vitamins
  • Information on how to minimise the occurrence of spina bifida and other neural tube abnormalities

This carrier testing program is $198 plus the costs of genetic testing recommended during the consultation process.

Frequently asked questions:

How much is the carrier testing?

If a couple is not pregnant, the usual process is to offer testing to the female partner first at a cost of $250US. If after receiving her result, testing of her male partner may not be necessary. If it is, the testing of the male partner is $100US

How is the test performed?

The test is conducted on a saliva sample. The sample collection kit if not given in person can be sent to any residence in Australia and the samples can be sent back to the lab for processing and testing.

Is the test accurate?

Yes. There is no difference in accuracy between a saliva sample and a blood sample. The DNA extracted from a saliva sample is analysed with a high level of sensitivity and specificity.