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Carrier Screening Tests

We are delighted to provide the UK’s most comprehensive carrier screening tests. We screen for over 700 genetic conditions that could affect your future children.

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 mutations.

Understand your and your partner’s genetic risks

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 mutation.

If both parents carry a mutation 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 severe genetic disease. There are ways to prevent the birth of a baby with a genetic syndrome.

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.

Carrier screening diagram, by London Pregnancy Clinic, explaining how genetic mutations 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 mutation.

The best selection of advanced carrier screenings in London with Genetic Counselling help available

Carrier Screening Tests in London Pregnancy Clinic

  • Carrier Screening is based on the BEACON 787 Test

  • 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 clinical genetic counsellors

  • 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

What are the benefits of genetic testing?

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

  • 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.
  • Personalized 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.

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.

We STRONGLY recommend having a pre-test counselling session prior to these appointments for an additional £80.

Who is a genetic counsellor?

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.

What does genetic counseling involve?

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

  • Reviewing family and health history to determine if the baby might inherit certain health issues.
  • 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.
  • Providing advice to help parents make informed decisions about genetic testing and prepare for any potential health risks.

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

Diving into Carrier Screening Tests Options

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.

We’re excited to offer you BEACON 787, the most extensive and advanced Carrier Screening Test by Fulgent. Fulgent, based in California, US, is one of the most advanced genetic labs in the world, renowned for the reliability of its genetic tests. BEACON 787 is also a pan-ethnic test, covering the most clinically critical genetic syndromes regardless of ethnic origin.

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 offer discounted genetic counselling for anyone considering genetic testing. This service ensures you feel informed, supported, and confident in your decisions about your baby’s health.

Carrier screening: Pretest and test results counselling
Carrier screening tests are best performed before pregnancy or at very early stages. Genetic counselling involves a detailed conversation with a specialist who helps you understand how your family’s health history might influence your health or your baby’s health. Here’s a simple overview of how it works:
  • Sharing Your History: Begin by discussing your family’s health history. This will help the counsellor identify any health patterns you should be aware of.
  • Understanding Together: The 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 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 counsellor listens and provides support throughout the process.
  • Making Informed Decisions: The 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 counsellor explains the test results, discusses the next steps, and directs you to additional resources if needed.

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.

Carrier Screening: what questions to ask our geneticist?

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

  1. What does carrier screening look for? Ask about the range of conditions and their different inheritance patterns.
  2. How accurate is carrier screening? Inquire about the test’s reliability for detecting carriers.
  3. What will the results tell us? Understand what you can learn from the outcomes and their implications.
  4. What happens if the test results are positive or unclear? Discuss follow-up steps and options for further testing.
  5. Are there any risks associated with carrier screening?
  6. How do the carrier screening tests at London Pregnancy Clinic compare to other carrier screening tests?
  7. When and how will we receive the results? Timing can be crucial for your peace of mind and planning.
  8. What are the costs, and can the NHS offer this testing in your case? Financial planning is an important aspect to consider.
  9. Considering our family health history, how relevant is carrier screening for us? Get personalized advice based on your specific situation.
  10. How do different carrier screening brands and providers compare? Each may offer unique tests or have different strengths.
  11. What are the pros and cons of various carrier screening options? Discuss the benefits and limitations to find what’s best for you.
  12. 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.
  13. 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.

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.

What is the best time for 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 mutations (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. The most advanced option includes 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.

Preconception genetic counselling

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:

  • 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 New Mutations (de novo mutations): New health issues (like Down syndrome) can sometimes arise unexpectedly. While not everything is predictable or preventable, knowing about these possibilities can help you make informed pregnancy decisions.
  • Reducing Genetic Risks: Discover ways to lower the chances 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 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, genetic counselling offers critical insights and advice for ensuring a healthy baby. It covers what tests might be useful before conception and early in the pregnancy.
What if I find out I am a carrier?

Most people carry a few abnormal genes called mutations. If you take an advanced genetic test like BEACON 787, there is more than a 50% chance it will detect that you are a carrier for one or more genetic syndromes. There are a few things about this.

Don’t Worry About Being a Carrier! 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. If their results are negative, no further action is needed.

  • 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, while 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 mutations in your genes may have implications for other family members, especially your siblings. They may also want to have a career screening test if they plan to have children.
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.
Best Carrier Screening Test in London
Week 10 & 11

BEACON 787 Carrier Screening

BEACON is a globally renowned advanced carrier screening test by Fulgent Genetics (US) with a strong reputation for identifying genetic syndromes. The Beacon 787 Expanded Carrier Screening Panel (with X-linked Disorders) is the most extensive pan-ethnic screening panel available. Its standout feature is the validated capability to screen for a wide range of genetic conditions, including cystic fibrosis and spinal muscular atrophy. Other conditions that Beacon 787 screens for can significantly impact health, potentially causing severe physical and intellectual disabilities. The test screens for 787 genetic syndromes make it one of the world’s most comprehensive carrier screening options.

At London Pregnancy Clinic, we provide the most advanced and extensive BEACON test options. Our pricing for the test is very competitive and includes complimentary genetic counselling in the case of positive carrier screening results. We also offer discounted genetic counselling before the test and a discount for simultaneous testing of both parents.

Beacon 787 also has 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.

Fast Carrier Screening Results During Pregnancy
Weeks 12 – 16

UNITY Carrier Screen

UNITY Carrier Screen is perfect for pregnant mothers who missed the chance for pre-pregnancy carrier screening and need quick results. Unlike other NIPTs, UNITY can perform maternal carrier screening during pregnancy.

The UNITY Carrier Screen doesn’t need a paternal DNA sample. It directly checks the baby’s genetic makeup. If the mother is a carrier, the test can then check fetal cfDNA to determine if the baby is at high risk of inheriting the disease.

The UNITY Carrier Screen tests for a few common severe genetic disorders, including cystic fibrosis (CF), spinal muscular atrophy (SMA), sickle cell disease, and other fetal red cell genetic disorders. It is not compatible with BEACON 787, which tests for over 700 genetic diseases.

You can also add UNITY Aneuploidy Screen to the Carrier Screen (combined price of £790). This provides secure screening for Down’s syndrome and other common chromosomal abnormalities.

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.

Below is a list of diseases and conditions for which we offer extended carrier screening options.

Spinal muscular atrophy

UNITY complete

Spinal Muscular Atrophy (SMA) is a rare genetic disorder that causes muscle weakness and atrophy due to problems with motor neurons in the spinal cord. The severity of SMA can vary, however, severe forms can resulted in significant disabilities and even death. CMA results from mutations in the SMN1 gene. UNITY’s sgNIPT Reflex technology provides prenatal screening for CMA.

Sickle cell anemia

UNITY complete

Sickle cell anaemia (SC) is a genetic blood disorder characterised by abnormally shaped red blood cells, leading to pain, anaemia, and other serious health problems. A mutation in the haemoglobin gene causes SC and is particularly common in people with an African or Caribbean family background.

UNITY’s sgNIPT Reflex technology provides non invasive prenatal screening for sickle cell anaemia.

Thalassaemia

UNITY complete

Thalassemia alpha and beta are inherited blood disorders characterised by abnormal haemoglobin production. Mutations in the haemoglobin gene lead to these conditions.

UNITY’s sgNIPT Reflex technology offers non-invasive prenatal screening for thalassemias. Please note that UNITY is a screening, not a diagnostic test. It provides information about the likelihood or risk of certain genetic conditions but does not provide a definitive diagnosis.

Frequently Asked Questions

Your questions answered

How can our genetic counsellor guide you regarding genetic tests?

Discussing carrier screening and other tests with our genetic counsellor can be very helpful. The best time to talk about carrier screening is before pregnancy or up to 8-10 weeks of gestation. Here’s why this timing works well:

  • Decide Early: Talking early in your pregnancy gives you plenty of time to decide if you want this test, which we offer up to 10 weeks gestation.
  • Prepare for Screening: Chatting before the test helps you understand what to expect and what the test can reveal.
  • Consider Next Steps: It’s important to think ahead about what you’ll do with the test results, whatever they may be.
  • Learn About Other Tests: This discussion is also an opportunity to hear about other tests you might consider during your pregnancy.
  • Consider NIPT: Some parents may also consider having NIPT along with carrier screening. These tests can provide more information about your baby’s health.

This early conversation ensures you’re informed and ready for whatever comes next, making your pregnancy journey smoother.

Do I need to speak to a genetic counsellor, or can I have the test on its own?

At London Pregnancy Clinic, we include special discounts for appointments with a genetic counsellor in all our packages. Even if you feel you have already decided on carrier screening, they will support you and provide information about the test.

A genetic counsellor will take a complete medical and family history to assess if there is an increased chance that you could be a carrier of a genetic condition. We believe having a clear plan with a healthcare professional to guide you through your results is better than navigating carrier screening and genetics alone.

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 787, 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 mutations, not de novo genetic conditions. De novo mutations are new mutations 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 mutations. NIPT is widely used to detect de novo mutations. 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 does Beacon 787 compare to other tests on the market?

Our carrier screening looks at more genes and, therefore, more genetic conditions than any other carrier screening currently offered in the UK.

Beacon 787 also incorporates a pan-ethnic approach, meaning it works well for people of different ethnic backgrounds. This ensures comprehensive screening for a wide range of genetic conditions across diverse populations.

How does our Carrier Screening program differ from other providers?

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. Here are the main advantages of choosing our carrier screening:

  • Pre-Test Counselling: We offer discounted pre-test counselling to help you understand the process and what to expect.
  • Extensive Panel: Our Beacon 787 panel is the most comprehensive available, covering a wide range of genetic conditions.
  • Direct Lab Relationship: We work directly with Fulgent Genetics, ensuring no delays and no extra costs.
  • Fast Turnaround Time: Our tests have a fast turnaround time, typically up to three weeks.
  • Competitive Pricing: We offer attractive pricing, including discounts for simultaneous testing of both parents.
  • Pan-Ethnic Approach: Our screening is effective for individuals of all ethnic backgrounds.
  • Early Gestation Screening: You can perform screening during the early stages of pregnancy, combined with expert fetal ultrasound and extended NIPT (SMART Test).
  • Needle-Phobic Options: We provide options for needle-phobic patients to ensure a comfortable experience.
  • Post-Test Counselling: If your results are positive, we offer post-test genetic counselling to discuss the next steps.

Choose London Pregnancy Clinic for a thorough, supportive, and efficient carrier screening experience.

How IVF can help parents with high chances for genetic conditions?

Couples with a known carrier risk for a baby’s genetic condition can benefit from recent advances in embryology and genomics. This makes a strong case for carrier screening, especially for couples who would never consider termination as a preventive measure to avoid delivering a child with a genetic disease.

This advanced option involves IVF with Preimplantation Genetic Testing for Monogenic/Single-Gene Disorders (PGT-M). PGT-M helps couples avoid the risk of having a child with an inherited genetic disease. It screens for single-gene disorders (monogenic syndromes), allowing for the selection of unaffected embryos for implantation. This process ensures that children are protected from inheriting the disease.

How long does the test take?

Usually, carrier screening takes three-four weeks from your blood sample being taken.

The sample will be sent to the US, and rarely is there a delay with shipping.

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 787, 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.

How does NIPT differ from carrier screening?

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

Purpose:

  • NIPT: Screens for specific chromosomal abnormalities in a developing baby, such as Down syndrome, Edwards syndrome, and Patau syndrome. Extended NIPT (like those in our SMART Test) also checks for some other de novo conditions: microdeletions and monogenic diseases.
  • Carrier Screening: Identifies whether a parent is a carrier of genetic mutations that could be passed to their child, such as cystic fibrosis, spinal muscular atrophy, and other inherited conditions.

Timing:

  • NIPT: Performed during pregnancy, typically around 10 weeks gestation.
  • Carrier Screening: Ideally conducted before pregnancy or in the early stages of pregnancy.

Method:

  • NIPT: Involves a simple blood draw from the mother to analyse fetal DNA present in her blood.
  • Carrier Screening: Involves a blood or saliva sample from one or both parents to analyse their genetic material.

Focus:

  • NIPT: Detects chromosomal and genetic abnormalities that arise spontaneously (de novo mutations) in the fetus.
  • Carrier Screening: Detects inherited genetic mutations that parents might pass on to their children.

Outcome:

  • NIPT: Provides information about the risk of the fetus having certain chromosomal conditions, allowing for early decision-making and preparation.
  • Carrier Screening: Provides information about the risk of parents passing on genetic conditions, helping with family planning and pregnancy management.

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

Take action today and schedule a consultation with our specialists to learn how these comprehensive tests can support your pregnancy journey.

Why is it extremely important to perform carrier screening before IVF treatment?

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 offers a unique opportunity to ensure that the embryo implanted in the womb is free from inherited genetic conditions.

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. This significantly increases the chances of a successful pregnancy and a healthy baby. 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.

Can carrier screening detect rare diseases?

Yes, carrier screening can detect many rare diseases. Advanced carrier screening panels, like Beacon 787, test for a wide range of genetic conditions, including many rare diseases. These tests identify if you or your partner carry genetic mutations that could be passed on to your children, including those for rare disorders.

However, carrier screening is limited to the diseases associated with the genes included in their panels. It also cannot screen for de novo rare diseases, which are new mutations that occur for the first time.

By detecting inherited mutations, carrier screening helps in assessing the risk of passing rare genetic diseases to your baby, enabling informed decision-making and planning for a healthy pregnancy.

What are the risks of carrier screening?

Carrier screening is a valuable tool, but it’s essential to understand the potential risks and limitations:

False Positives and Negatives

  • False Positives: The test might indicate a mutation that isn’t actually present, causing unnecessary stress. It is a rare situation for Beacon Tests.
  • False Negatives: The test might miss a mutation that is present, giving a false sense of security. This is also uncommon.

Emotional Impact

  • Anxiety: Learning about potential genetic risks can cause anxiety and stress for prospective parents.
  • Decision Pressure: Deciding what to do with the information can be challenging, especially if both partners are carriers.

Limited Scope

  • Panel Limitations: Carrier screening is limited to the specific genes included in the panel. It cannot detect every possible genetic condition.
  • De Novo Mutations: The test cannot screen for de novo mutations, which are new genetic changes not inherited from parents.

    Financial Costs

    • Testing Costs: While many consider it worth the investment, carrier screening can be expensive, we have tried our best to make the test affordable.
    • Follow-Up Testing: Additional tests and consultations may incur extra costs.

    Ethical Considerations

    • Family Planning Decisions: The information from carrier screening can lead to complex ethical decisions about family planning and pregnancy.

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

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