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.