Eugene’s carrier test only includes serious and actionable conditions.
The conditions we screen for are serious, actionable and relevant to know about:
1. Serious genetic conditions
Conditions that impact a child’s life expectancy or development and have limited treatment options.
2. Results are actionable
Where the knowledge of being a carrier can open up options to avoid passing on the condition.
3. Relevant to everyone
An expanded condition list making this test relevant for people of all ethnicities & backgrounds.
Details for clinicans —
This test includes:
All conditions recommended by the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG), the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG).
Full gene sequencing with deletion and duplication analysis.
Actionable results;no reporting of variants of unknown significance
Enhanced Spinal Muscular Atrophy (SMA) testing to help identify silent carriers.
Severe and prevalent conditions seen across all ethnicities
Reports can be issued for an individual and also together as a couple in a combined couples report.
There are two types of conditions on Eugene’s carrier test:
Recessive conditions cover the majority of conditions that are on the test. Carriers of recessive conditions are completely healthy and show no signs of the condition. However, if both parents are carriers of the same condition, there’s a one in four chance that their children would have the condition.
A couple of important things to note are that most people are carriers of one or more genetic conditions; And most children born with a recessive condition showed no family history of it.
For x-linked conditions the sex of the parent who passes on the variant influences the risk for the children. They are generally passed on from carrier mothers and more commonly affect boys.
If the mum is a healthy carrier and they have a son, there is a 50% chance that the child could be affected by the condition. If they have a daughter, there is a a 50% chance that they will be a healthy carrier — like her mum. At Eugene only females are screened for x-linked conditions.