Carrier Screening Tests

We are delighted to provide some of the UK’s most comprehensive carrier screening tests via our partner Jeen Health. Depending on the panel, we can screen up to around 3,000 genes that could affect your future children.

Book from £660

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Understand your and your partner’s genetic risks

Many people are unaware that they may be healthy carriers of a genetic syndrome. Carrier screening is a genetic test for individuals or couples to understand their risk of having a child with a genetic condition. It examines multiple genes to identify any genetic variants or variants.

Although individual genetic conditions are rare, genetic diseases in children are relatively common. Carrier screening can reveal an individual’s carrier status, helping them understand any implications for current and future pregnancies. Everyone is likely a carrier of some genetic variant.

If both parents carry a variant for the same genetic condition, such as cystic fibrosis (CF) or spinal muscular atrophy (SMA), they have a 25% chance of having a baby with a genetic disease. There are ways to prevent the birth of a baby with a genetic syndrome.

Carrier screening diagram, by London Pregnancy Clinic, explaining how genetic variants are passed from parents to child, showing that each parent contributes one gene of each pair, with a risk of the child inheriting a genetic condition if both parents carry the same variant.

Carrier screening before pregnancy and IVF

Identifying whether you and your partner are carriers for the same genetic condition helps you understand the risk to your current or future pregnancy. In such cases, you will have various options to consider when planning a family, including testing during pregnancy. Home testing kits are now available through our partner Jeen Health Carrier Screening.

Performing carrier screening before IVF treatment is crucial due to today’s advanced genetic technologies. These technologies allow detailed checking of the genetic makeup of preimplantation embryos. IVF can offer a unique opportunity to test for genetic conditions found in the family.

You and your partner could both be carriers of a genetic syndrome without knowing it. Without this test, you might miss the chance to ensure the health of your baby. Preimplantation Genetic Testing for Monogenic/Single-Gene Disorders (PGT-M) can screen embryos for specific genetic conditions before implantation, preventing the birth of a baby with an inherited genetic disease.

By identifying potential genetic issues early, IVF embryologists can select healthy embryos for implantation. Carrier screening before IVF treatment plays a vital role in family planning and ensuring the best possible outcomes for your child. Perform your carrier screening at London Pregnancy Clinic before planning IVF to ensure the health of your future baby.

Carrier Screening Tests in London Pregnancy Clinic

Carrier screening from Fulgent, an internationally accredited genetics laboratory
Our standard expanded panel looks at over 1000 genes
Saliva and blood sample options both supported
Pan-ethnic panel: works for everyone
Competitive prices – from £660 for the extended test
Special price for both partners testing – £1200
Genetic counselling included in the case of screen-positive results
Possibility of carrier screening during pregnancy
Certified genetic counsellors via Jeen Health
Personalised risk assessment and customised support
Preconception counselling: pre-pregnancy genetic advice
Same-day, evening, and weekend genetic tests
Options for individuals with fear of needles (needle phobia)

Carrier Genetic Testing Explained

Genetic testing offers several benefits, not just for you, but for your entire family. Here are some key advantages:

Overall, genetic testing empowers you with knowledge about your health and your family’s health. It helps you make well-informed decisions and take proactive steps to ensure the best possible outcomes for you and your loved ones.

Carrier screening diagram, by London Pregnancy Clinic, showing the chances of passing on cystic fibrosis if both parents are healthy carriers, with 25% chance of child having CF, 50% chance of child being a carrier, and 25% chance of child not inheriting CF.

Pre-test genetic counselling

We include a pre-test genetic counselling session prior to any carrier screening appointment. This ensures that you can access the right expertise, before you have any testing, to prevent you paying for a test that doesn’t address your concerns or needs.

A genetic counsellor specialising in pregnancy and fertility is a healthcare professional trained in genetics and counselling. They assist individuals and couples during preconception, pregnancy, and the postnatal period. They help assess the risk of inherited conditions, interpret test results like carrier screening or NIPT, and advise on genetic testing options.

These counsellors work with fetal medicine specialists to provide crucial support. They help families navigate the complex landscape of genetic information. This guidance enables families to understand their options for family planning, prenatal screening, and managing potential genetic risks. This support ensures the best possible outcomes for both parents and their future children.

At London Pregnancy we offer Genetic Counselling and Testing/Screening via our partner, Jeen Health.

Before and during pregnancy, genetic counselling helps expectant parents understand how genes might affect their baby’s health. This includes:

This service aims to give parents clear, simple information. It helps them feel ready and supported as they plan for their baby’s future.

How we choose our tests

There are hundreds of genomic test providers and genetic labs. Some have internationally recognised reputations, while others are relatively unknown. At London Pregnancy Clinic, we take pride in being a leading provider of NIPT in the UK. We have put enormous effort into choosing the best providers of NIPT.

Similarly, we have applied the same rigorous standards in selecting our carrier screening test providers. We’ve carefully selected the best carrier screening options available, thoroughly evaluating different companies, labs, and their tests. Our goal is to offer the most advanced tests that cover the broadest range of clinically critical genetic conditions identifiable with today’s genomic technology. We aim to avoid confusion between the numerous trade names and packages different companies offer.

Fulgent carrier screening

We offer Fulgent’s suite of carrier screening tests, from smaller panels up to their largest, most extensive panel. Fulgent, based in California, US, is a globally renowned genetics laboratory, with many carrier screening options and a strong reputation for the reliability of its tests. Their pan-ethnic panels cover the most clinically critical genetic syndromes regardless of ethnic origin, and we can also arrange more bespoke, extensive testing for couples testing together. You can read more about their carrier screening tests.

We understand that other carrier screening options might feel overwhelming, so we’re here to simplify things for you. To help you navigate these choices, we include pre-test genetic counselling for anyone considering genetic testing. This service ensures you feel informed, supported, and confident in your decisions about your baby’s health.

Throughout this journey, you’re supported. Genetic counselling offers personalised guidance to help you navigate the genetic aspects of pregnancy and fertility, ensuring you make well-informed decisions for yourself and your future family.

When to have carrier screening

Carrier screening is ideal before pregnancy, especially if you are testing alone without involving your partner, which can save you money. If no variants (abnormal genes) are detected, your partner doesn’t need the same carrier screening panel. If you do have an abnormal gene, your partner should be tested for the same genetic condition. Genetic counselling is essential if both of you are carriers of the same gene.

Don’t worry; there is ample time and many options to consider for diagnostics and prevention. One option is IVF with Preimplantation Genetic Testing for Monogenic/Single-Gene Disorders (PGT-M). PGT-M can help couples avoid the risk of having a child with an inherited genetic disease. It looks for single-gene disorders (monogenic syndromes), allowing for the selection of unaffected embryos for implantation into the womb. This process ensures resulting children are protected from inheriting the disease.

Why preconception counselling matters

Why is Preconception Genetic Counselling Important? Preconception genetic counselling acts as a roadmap for your future family’s health. Here’s why it’s essential:

For an expanded carrier screen, the majority of people who take the test are found to be a carrier for one or more genetic conditions. If you take an advanced genetic test like Beacon One+, there is more than a 50% chance it will detect that you are a carrier for one or more genetic syndromes.

If you are a carrier of a recessive condition, our genetic counsellor will discuss the result with you. There is a 50% chance you could pass this gene to your child, but it typically would not affect their health. For most conditions we screen for, there are only implications for your pregnancy if your partner is also a carrier of the same condition. This is why we recommend your partner undergo the same carrier screening test.

Our carrier screening tests

Expanded carrier screening from Fulgent, an internationally accredited genetics laboratory.

Fulgent Carrier Screening

Fulgent Genetics (US) is a globally renowned genetics laboratory with a strong reputation for identifying genetic syndromes. We offer their suite of expanded carrier screening panels — pan-ethnic and among the most extensive available — with the validated capability to screen for a wide range of genetic conditions, including cystic fibrosis and spinal muscular atrophy. Our standard expanded panel looks at over 1000 genes, and we can arrange more bespoke testing for couples testing together.

Book £660

Carrier screening and how it differs from NIPT

At London Pregnancy Clinic, we provide advanced and extensive carrier screening options through Fulgent. Our pricing for the test is very competitive and includes complimentary genetic counselling in the case of positive carrier screening results. With our partner, Jeen Health, pre-test genetic counselling is included, and we offer a discount for simultaneous testing of both parents.

Our expanded panels also have the advantage of a relatively short turnaround time of up to 3-4 weeks, although this can be slightly longer due to international shipping to the US-based lab.

NIPT (Non-Invasive Prenatal Testing) and carrier screening are both important genetic tests, but they serve different purposes and are conducted at different stages.

NIPT vs carrier screening — the key differences

	NIPT	Carrier screening
Purpose	Screens for specific chromosomal abnormalities in a developing baby, such as Down syndrome, Edwards syndrome and Patau syndrome. Extended NIPT (like our SMART Test) also checks for some other inherited and de novo conditions: microdeletions and monogenic diseases.	Identifies whether a parent is a carrier of genetic variants that could be passed to their child, such as cystic fibrosis, spinal muscular atrophy and other inherited conditions.
Timing	Performed during pregnancy, typically around 10 weeks gestation.	Ideally conducted before pregnancy or in the early stages of pregnancy.
Method	A simple blood draw from the mother to analyse fetal DNA present in her blood.	A blood or saliva sample from one or both parents to analyse their genetic material.
Focus	Detects genetic variation that arises spontaneously, and a small number of inherited genetic conditions.	Detects inherited genetic variants that parents might pass on to their children.
Outcome	Provides information about the chance of the fetus having certain genetic conditions, allowing for early decision-making and preparation.	Provides information about the chance of parents passing on genetic conditions, helping with family planning and pregnancy management.

Both NIPT and carrier screening provide different yet complementary information about your baby’s genetic make-up. Another powerful tool for checking fetal health is an expert ultrasound. At London Pregnancy Clinic, we advocate the combined use of all three — NIPT, carrier screening and expert ultrasound — to support the best possible health outcomes for your baby.

The most common and known genetic syndromes and inherited diseases which can be detected by carrier screening.

The perception of carrier screening among professionals and patients has traditionally centred around its ability to identify carriers of common genetic conditions such as cystic fibrosis and spinal muscular atrophy. This was indeed the case when the first carrier screening tests were introduced. However, over the past decade, remarkable advancements in human genomics have emerged, leading to the availability of highly advanced carrier screening options.

As the leading provider of genetic testing in London, the London Pregnancy Clinic has taken the initiative to review all commercially available advanced carrier screening options. Our aim is to meticulously select the most optimal options for each specific condition, ensuring the best possible care for prospective parents and their future children.

Please note that most extended carrier screening options are available for both partners.

If there is a specific gene or genetic condition that you would like to explore carrier screening for, please contact us for bespoke advice.

Why carrier & genetic testing helps

Understanding Health Risks

Genetic testing can identify if you or your partner are carriers of genes for certain genetic conditions. This helps you understand the risk of passing these conditions to your children.

Informed Decisions

Knowing your genetic risks lets you make informed decisions about your pregnancy and family planning. You can consider options like IVF with preimplantation genetic testing (PGT-M) testing, early interventions, or other preventive measures.

Personalised Care

With genetic information, doctors can provide more personalized care. They can recommend specific tests, treatments, or lifestyle changes to help manage or reduce health risks.

Family Health Insights

Genetic testing can reveal important health information that may affect other family members. If a genetic condition is identified, other relatives can also get tested and take steps to manage their health.

Early Intervention

Detecting genetic conditions early can lead to earlier interventions and better management of the condition. This can improve the quality of life for affected individuals.

Peace of Mind

For some, genetic testing provides peace of mind. Knowing your genetic information can alleviate uncertainties about potential health risks.

Preventive Measures

Genetic testing allows for preventive measures to be taken, potentially reducing the risk of having a child with a genetic syndrome.

What a genetic counsellor does

Reviewing your history

Reviewing family and health history to determine if the baby might inherit certain health issues.

Explaining inheritance & tests

Explaining how genetic conditions are passed on, what tests are available, and how to manage or prevent these conditions. Additionally, guiding parents on where to find more help or information.

Guiding your decisions

Providing advice to help parents make informed decisions about genetic testing and prepare for any potential health risks.

Your counselling session, step by step

Sharing Your History

Begin by discussing your family’s health history. This will help the genetic counsellor identify any health patterns you should be aware of.

Understanding Together

The genetic counsellor explains how genes function and discusses potentially inherited conditions. They might explain Non-Invasive Prenatal Testing (NIPT), a blood test performed during pregnancy to assess the risk of conditions like Down syndrome. They may also cover carrier screening tests, which can reveal if you or your partner carry genes for conditions like cystic fibrosis (CF).

Discussing Tests

The genetic counsellor provides information about available tests, their workings, and what the results might indicate. This part ensures you have all the information required to decide whether to undergo any tests.

Offering Support

It’s a safe environment to express your feelings and concerns. The genetic counsellor listens and provides support throughout the process.

Making Informed Decisions

The genetic counsellor helps you evaluate the pros and cons of testing based on your priorities. They support your decision-making process without dictating your choices.

Continued Assistance

The support doesn’t end after you decide about testing. The genetic counsellor explains the test results, discusses the next steps, and directs you to additional resources if needed.

Questions to ask your genetic counsellor

Here’s a comprehensive list of questions you might consider asking our genetic counsellor about carrier screening:

What does carrier screening look for?

Ask about the range of conditions and their different inheritance patterns.

How accurate is carrier screening?

Inquire about the test’s reliability for detecting carriers.

What will the results tell us?

Understand what you can learn from the outcomes and their implications.

What happens if the test results are positive or unclear?

Discuss follow-up steps and options for further testing.

Are there any risks associated with carrier screening?

Understanding these risks helps in making informed decisions about whether carrier screening is right for you and your family.

How do the carrier screening tests at London Pregnancy Clinic compare to other carrier screening tests?

At London Pregnancy Clinic, we utilise a unique and holistic approach to genetic testing. Our Carrier Screening is part of a comprehensive range of genomic testing options.

When and how will we receive the results?

Timing can be crucial for your peace of mind and planning.

What are the costs, and can the NHS offer this testing in your case?

Financial planning is an important aspect to consider.

Considering our family health history, how relevant is carrier screening for us?

Get personalized advice based on your specific situation.

How do different carrier screening brands and providers compare?

Each may offer unique tests or have different strengths.

What are the pros and cons of various carrier screening options?

Discuss the benefits and limitations to find what’s best for you.

Should we also consider additional genetic tests in pregnancy, like NIPT?

Other tests can look for different conditions for a comprehensive view of your baby’s genetic health.

What causes unclear results, and what do we do if that happens?

Understand why carrier screening sometimes doesn’t give a clear result and what the next steps are in that scenario.

How genetic counselling helps you plan

Asking these detailed questions can really help you feel prepared and informed about carrier screening and any other genetic tests you’re considering during your pregnancy. It’s all about making sure you have the clarity and confidence to make the best choices for you and your little one on the way.

Understanding Family Health Risks

Review both partners’ family health histories. This helps identify any potential risks of passing certain health issues to your baby.

Identifying the risk of a new genetic condition

Genetic conditions can occur unexpectedly, without one or both parents being a carrier. Sometimes, this is impacted by either the mother’s or father’s age at the conception of the pregnancy. While not everything is predictable or preventable, knowing about these possibilities can help you make informed pregnancy decisions.

Managing Genetic Risks

Discover ways to manage the chance of having a baby with genetic issues. Not all conditions can be avoided, but being informed helps you plan effectively.

Carrier Screening Tests

These tests determine if you or your partner carry genes for conditions like cystic fibrosis without having the condition yourselves. Understanding this helps you know if your baby might inherit these conditions and explore options if you wish to prevent transmission.

Exploring NIPT Options

Learn about Non-Invasive Prenatal Testing (NIPT) available during pregnancy. NIPT screens for genetic conditions like Down syndrome early on, providing peace of mind and valuable information for decision-making.

In summary

In summary, genetic counselling offers critical insights and advice for understanding family planning in an era of modern genomic medicine. It can cover what tests might be useful before conception and early in the pregnancy.

Understanding inheritance & risk

Risk for Couples Who Are Both Carriers

If both partners are carriers of the same condition, there is a 25% chance their baby could be affected by that genetic condition. Our genetic counsellor will advise you on your options, including the possibility of testing during pregnancy.

X-Linked Conditions

X-linked conditions are genetic disorders linked to genes on the X chromosome (female chromosome). Males are more frequently affected since they have only one X chromosome. Females can be carriers without showing symptoms. However, if you are a carrier of an X-linked condition, this result may have implications for your own healthcare. Our genetic counsellor will discuss this possibility with you during your pre-test counselling session.

Family Implications

Finding variants in your genes may have implications for other family members, especially your siblings. They may also want to have a carrier screening test if they plan to have children.

Your questions answered

If I am not a carrier, does this mean I won’t have a child with a genetic condition?

Carrier screening, even very extended panels like Beacon One+, is never exhaustive; no one genetic test can rule out all known genetic conditions. This test can, therefore, reduce the risk that you are a carrier of certain genetic conditions but does not rule it out entirely. For this reason, this test is referred to as “screening” only.

Can carrier screening detect de novo genetic conditions?

Carrier screening primarily identifies inherited genetic variants, not de novo genetic conditions. De novo variants are new variants that occur for the first time in an egg or sperm cell or shortly after conception and are not inherited from either parent. Therefore, carrier screening cannot detect these new genetic changes.

The most well-known de novo genetic condition is Down syndrome; however, there are hundreds of other such variants. NIPT is widely used to detect de novo variants. Our SMART Test uses a wide panel NIPT and is particularly effective for reducing the risk of de novo genetic syndromes.

Can I have this test on the NHS?

Carrier screening for multiple genetic conditions at once, like Beacon Carrier Screen, is not offered on the NHS.

Carrier testing is only offered on the NHS for specific circumstances, such as if you have a family history of a genetic condition. If your partner is a known carrier of a genetic condition, you may be eligible for a carrier test on the NHS for that specific genetic condition.

How long does the test take?

The carrier screening test itself takes only a few minutes — it is a simple blood sample. From the day your sample is taken, results usually take around three to four weeks to come back. Because Beacon One+ is processed by the Fulgent laboratory in the US, the reported turnaround can occasionally be slightly longer if there is a delay with international shipping.

We will let you know your results as soon as they arrive, and if anything is screen-positive, complimentary genetic counselling is included so you never face the outcome alone. If your timing is tight — for example, you are already pregnant — talk to us when you book, and our team can talk you through the options and our wider genetic testing and counselling services.

Do I need to have carrier screening before I get pregnant?

No. However, having this testing prior to a pregnancy would give you time to process the results outside of pregnancy, which can be a stressful time for any prospective parent. If you are hoping to have this test at some stage, we think that the best time is when planning a family.

Is there a limit to how far along in a pregnancy I can have carrier screening?

At the London Pregnancy Clinic, we offer carrier screening for up to 10 weeks of gestation. This is to ensure that you do not receive worrying results late into your pregnancy. We want to ensure that these results prepare you for your pregnancy and give you information at an early stage.

What are the limitations of carrier screening?

This test, even very extended like Beacon One+, does not look at all known genes, so we may miss that you are a carrier of a different genetic condition. You also may have a rare change in one of the genes included in the test that the test did not detect.

Your carrier screening will include mostly genes that have recessive inheritance and some with X-linked inheritance. This test does not look for genes with dominant inheritance. Your genetic counsellor can explain the different types of inheritance to you.

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Sources & clinical references

The figures and clinical statements on this page are drawn from the sources below. Guidance evolves — always discuss your individual circumstances with a clinician.

NHS England Genomics Education ProgrammeAutosomal recessive inheritance (NHS England Genomics Education Programme, GeNotes Knowledge Hub)2024
NHS England Genomics Education ProgrammeCystic fibrosis — Knowledge Hub2024
European Journal of Human Genetics (via PubMed Central)Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples2018
NIH National Center for Biotechnology Information (GTR)Beacon Expanded Female Carrier Screening Plus Panel — Genetic Testing Registry (GTR)2024