Genetic Screening - Invitae

All donors at Fertility Associates are screened using Invitae genetic screening. 

Why we do it?

Genetic screening identifies whether you are a carrier of a range of inherited conditions. Most people are carriers of one or more genetic conditions, even though no one in their family has the condition. Being a carrier is important if the person using the sperm is also a carrier of the same condition.  

Invitae’s carrier screening includes:

  • Severe and prevalent disorders seen across all ethnicities
  • Enhanced SMA testing to help identify silent carriers
  • Comprehensive Fragile X analysis, including AGG interruptions
  • Full gene sequencing with deletion and duplication analysis leading to a 99% detection rate for most genes
  • Actionable results; no reporting of variants of unknown significance

Different Options of number of genes tested 

  • Comprehensive – 288 - this is the option we use for donor screening
  • Core - 3
  • Broad - 46

When we do it?

At your screening appointment (for semen analysis) we will also take a saliva sample.

Once we have collected the sample, it takes between 3-4 weeks for results to be available. These will be discussed with you at your doctor’s consultation. The doctor can give you a copy of your results.

More info can be found here on the Info sheet

About Results:

  • Positive: If the test shows you are a carrier, talk to your doctor or genetic counsellor.  If you are a carrier of some conditions. It is recommended that you speak to your doctor of genetic counsellor.
  • Negative: A negative result means that no disease-causing variants were identified for any of the disorders tested. A negative test provides reassurance because the chance of having a child with any of the tested disorders is reduced. However, no test can detect all carriers, so there is still a small chance, called a residual risk, of being a carrier  Please see link here for the conditions screened and for your residual risks.

Or you can visit the Invitae website here. 

Insurance: We have had a few questions regarding how genetic screening could impact insurance policies - so we asked Southern Cross for advice.  You can read this here.