Genetic Carrier Screening
Next Generation Sequencing (NGS)
A comprehensive genetic screening test that identifies whether you and/or your partner carry inherited genetic variants that could be passed on to your children, helping support informed family planning and reproductive decisions.
€149.00
per test kit
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What's Included
Full Description
Carrier screening determines whether a healthy individual carries genetic variants associated with inherited disorders. Carriers are usually unaffected themselves but may pass these variants on to their children. When both biological parents carry variants in the same recessive disease gene, there is an increased risk of having an affected child.
This test uses advanced Next Generation Sequencing (NGS) technology to screen for up to 231 genes associated with moderate to severe autosomal recessive and X-linked genetic disorders. The screening is designed to provide actionable reproductive information for individuals, couples, sperm or egg donors, and those pursuing assisted reproduction.
Testing options include:
Focus Panels:
Alpha-thalassaemia
Beta-haemoglobinopathies
Cystic fibrosis
Duchenne muscular dystrophy
Fragile X syndrome
Spinal muscular atrophy
Core Panel
Screening for common, clinically severe inherited disorders
Includes conditions such as phenylketonuria, Fanconi anaemia group C, Tay-Sachs disease, and the diseases included in the Focus Panels.
Comprehensive Panel
Expanded screening covering up to 231 genes
Includes the core panel and other metabolic, neurological, cardiovascular, immunological, and haematological disorders.
The Process: from purchase to results
- Order your test – The kit is delivered discreetly to your door. Once you purchase your test kit, you will receive an email with a link to the Customer Guide. You will need to log in (using the credentials you created upon purchasing the kit), to access the Customer guide.
- Fill in the form – Submit the online consent form and family history questionnaire.
- Collect your sample – Simple and painless sample collection following the instructions provided.
- Send it back – Return your sample using the mailing bag with prepaid return shipping label.
- Receive your report – Get a detailed breakdown of your genetic
Optional Add-Ons/Related Tests
Genetic Fertility & Vaginal Microbiome
Thrombophilia & Neonatal Alloimmune Thrombocytopenia (NAIT)
Key Features
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Screens for up to 231 genes associated with autosomal recessive and X-linked disorders
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Identifies carrier status for both common and rare inherited conditions
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Suitable for individuals and couples planning a family
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Flexible testing options: choose from core (guidelines-based) or comprehensive panel, down to single-disease focus panels
Frequently Asked Questions
Why should I get this test?
Anyone can be a carrier of a genetic condition, even without a family history or symptoms. Carrier screening helps identify whether you carry genetic variants that could be passed on to your children and supports informed reproductive planning.
This test may be particularly useful for:
Couples planning a pregnancy
Individuals undergoing assisted reproduction (IVF)
Sperm and egg donors
Pregnant couples wishing to understand inherited disease risks
Individuals with a family history of genetic disease
This test may be particularly useful for:
Couples planning a pregnancy
Individuals undergoing assisted reproduction (IVF)
Sperm and egg donors
Pregnant couples wishing to understand inherited disease risks
Individuals with a family history of genetic disease
When should I take this test?
Carrier screening can be performed before pregnancy, during fertility planning, before assisted reproduction, or during pregnancy. However, testing before conception provides the widest range of reproductive options should an increased genetic risk be identified.
How do I prepare for sample collection?
Do not smoke, eat, drink (except water), brush your teeth, or chew gum within 30 minutes before collecting your buccal swab sample.
If you have recently undergone a bone marrow transplant or received donor blood products, please inform your healthcare provider before testing.
If you have recently undergone a bone marrow transplant or received donor blood products, please inform your healthcare provider before testing.
What is included in the report?
Your report includes:
Assessment of carrier status and results for genes analysed
Any identified pathogenic and likely pathogenic variants
Clinical interpretation of detected findings
Risk information relevant to reproductive planning
Assessment of carrier status and results for genes analysed
Any identified pathogenic and likely pathogenic variants
Clinical interpretation of detected findings
Risk information relevant to reproductive planning
How do I interpret the results?
The results should be interpreted with the help of your family doctor, fertility specialist, or genetic counsellor. If both biological partners are carriers for the same recessive condition, additional genetic counselling and reproductive options may be discussed.
Does a negative result eliminate all genetic risk?
No. While carrier screening significantly reduces the likelihood of being a carrier for the conditions tested, no test can eliminate all genetic risk. Residual risk remains because not every possible disease-causing variant can be detected.
Can I take this test if I am pregnant?
Yes. Carrier screening can also be performed during pregnancy to assess whether the baby may be at increased risk of specific inherited genetic disorders.
Do you ship worldwide?
This service is currently available only for customers living in the EU.
What complementary tests or services should I consider?
Optional add-ons that may provide you or your healthcare provider with more in-depth information include:
Vaginal Microbiome & Genetic Fertility Testing
A complete at-home fertility support package that combines genetic fertility insights with a deep analysis of your vaginal microbiome to help support informed fertility planning.
Thrombophilia & Neonatal Alloimmune Thrombocytopenia (NAIT)
Genetic testing to identify inherited clotting disorders and platelet incompatibilities that may affect pregnancy and newborn health.
Vaginal Microbiome & Genetic Fertility Testing
A complete at-home fertility support package that combines genetic fertility insights with a deep analysis of your vaginal microbiome to help support informed fertility planning.
Thrombophilia & Neonatal Alloimmune Thrombocytopenia (NAIT)
Genetic testing to identify inherited clotting disorders and platelet incompatibilities that may affect pregnancy and newborn health.
