Genetic Carrier Screening 

We now offer the option to do genetic testing through Invitae, either for your own information or to check compatibility with your partner or potential donor.

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

Invitae offer 3 options for the number of genes tested (see attached info sheet)

    • Core - 3
    • Broad - 46
    • Comprehensive – 288 - (This option is used as part of donor screening) 

Cost:

    • Patients: Invitae invoices patients directly, not through FA – you can find their latest prices here. 
    • Donors: the test is free of charge and part of our donor screening.

Partner screening:

    • If a patient has completed Invitae screening and the partner wishes to also get tested, the cost for the test is billed through Invitae
How the test process works: 
  1. Decide whether or not to have the test: It is your choice whether or not to have the
    test. Read through the information provided and discuss the test with your doctor or genetic counsellor.  
  2. Consider whether it is the right time to have the test: To ensure there is time to make decisions it is best to have this test either before pregnancy or early in pregnancy. If you are pregnant, we recommend having screening before 12 weeks of pregnancy.
  3. Request the test: If you would like to have the test, your doctor or genetic counsellor will need to complete a test request slip.
  4. Sample collection: Your doctor will arrange for you to have a blood or saliva sample taken. Your sample will be sent to the genetic laboratory where it will be processed. 
  5. Receive your results: It will take approximately 2 - 4 weeks working days (from receipt of sample) for your test to be processed and your results to be sent to your doctor or genetic counsellor. Your doctor or genetic counsellor will discuss your results with you.
  6. 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, your partner may need to have carrier testing and 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 you 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 if a donor is positive for a particular test.
  7. 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.
GP Referral:

To access Genetic Carrier screening for your patients we recommend an appointment with a Genetic Counsellor or a Fertility Specialist.  This way your patient is supported throughout the preparation and results stage of the screening.

We have Genetic Counsellors in both Auckland and Christchurch, all other regions would need a fertility specialist first consultation appointment.

If you are referring patients for the test, you can refer using your preferred referral method - or your patient can request an appointment directly online here