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?

For egg donors

  • At your first consultation appointment 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 when the sample results arrive at the clinic with a follow up phone call. The doctor can give you a copy of your results.

For sperm donors

  • At your screening appointment 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. 


Privacy and Invitae

  • We consider data held by Invitae safe - Invitae conforms to the USA Health Insurance Portability and Accountability Act (HIPPAA)
  • For international patients, which includes our patients and donors in NZ:  
    • Invitae doesn’t share any information with a third party, including:
      • Names, dates of birth, where the sample came from, etc.
      • De-identified information, such as test results
    • Invitae doesn’t  do any extra tests or analysis on the samples we send, such as developing tests for other conditions
    • Invitae may use data or samples for internal purposes only
    • Invitae may use the samples we send for quality control of the existing tests
  • Fertility Associates does not supply the results from your genetic testing to anyone without your knowledge.
    • We do show potential recipients a de-identified version of your results.
    • If we were to refer you to genetic counselling, we would provide them with your results.