This Test Is Highly Recommended For

Anyone seeking proactive, genetics-based health insights

Individuals or couples planning to start a family

Those with a family history of inherited genetic conditions

Icon of a blue DNA double helix on a white background

People from ethnic backgrounds with a higher risk of specific genetic disorders

Why Carrier Screening Matters

Most people who carry a genetic condition have no family history of it. Around 80% of carriers are completely unaware until testing is done.

1 in 4

Couples Carry the Same Genetic Condition.

+

1

%

of Individuals Are Carriers of At Least One Condition.

~

1

%

of Rare Diseases have a genetic basis - According to UK's Rare Diseases Action Plan.

1 in 100

Couples in the UK are at risk of having a child affected by a serious recessive condition.

Carrier screening helps identify whether you or your partner carry genetic variants that could be passed on to a child. Knowing this early allows you to make informed reproductive choices, plan ahead and reduce the risk of passing on serious inherited conditions.

There are more than 400 known genetic conditions that can be identified through modern genomic analysis. Many of these are preventable or manageable when detected before pregnancy.

By understanding your carrier status, you can
• Discover potential risks for inherited conditions such as cystic fibrosis, thalassaemia or spinal muscular atrophy
• Access reproductive guidance and early intervention options
• Make proactive and confident decisions for your family’s health

Genetic knowledge gives you choice and with choice comes peace of mind.

Gain Genetic Insights to Support Your Family’s Future

The Phenome Carrier Screening Test helps you discover whether you carry genetic variants that could be passed on to your children. Using a simple at-home DNA collection kit and a detailed carrier status report, you gain clear insights to make confident, informed decisions for your family’s future health and wellbeing.

What's Included In Your Carrier Screening Report

Summary of Your Carrier Status

A clear overview of whether you carry any gene variants linked to inherited conditions. This section highlights all identified findings, including whether they are of clinical relevance and what type of inheritance pattern they follow.

Gene and Variant Details

Comprehensive information on the specific genes and variants analysed through next-generation sequencing (NGS). Each variant is classified based on clinical guidelines from ACGS and ClinGen, including gene coordinates, zygosity, and variant classification.

Condition-Specific Findings

Each detected variant is connected to its related medical condition, providing a concise summary of the disorder, associated risks, and inheritance pattern.

Inheritance Pattern Explanation

A simple and clear explanation of how genetic inheritance works, including autosomal dominant, autosomal recessive, and X linked patterns, to help you understand how results could affect you and your family.

Ethnicity Based Risk Context

Some genetic variants are more common in specific populations. This section places your results in context with global data, providing insight into carrier frequencies across different backgrounds.

Partner Screening Recommendations

When relevant, this section explains whether your partner should also be screened based on the inheritance type of any identified variants. Testing both partners helps determine if there is a potential risk for future children.

Residual Risk Explanation

Even with a negative result, a small residual risk may remain. This section explains why no test can fully eliminate risk due to genetic variability and evolving scientific knowledge.

Glossary and Scientific Notes

Definitions of key genetic terms and an outline of how results were interpreted. This section covers databases and classification systems such as ClinVar, gnomAD, ACGS, and ClinGen.

Explore the Genes We Screen For

The table below includes 115 genes, representing the most common ones screened in our Carrier Test. These genes are grouped into key health categories for easier navigation.

If you’d like to explore the full list of +1,000 genes included in our panel, click below.

Metabolic Disorders

Neurological and Neurodevelopmental Disorders

Neuromuscular Disorders

Hematological Disorders

Endocrine and Reproductive Disorders

Skeletal and Connective Tissue Disorders

Sensory Disorders (Vision / Hearing)

Renal Disorders

Cardiovascular and Muscular Disorders

Immune and Inflammatory Disorders

Dermatological and DNA-Repair Disorders

Developmental and Multisystem Syndromes

Respiratory Disorders

Metabolic Disorders

Most Important Genes We Identify

ACADM, ACADVL, ACAT1, AGXT, ALDOB, ATP7B, CYP27A1, CYP27B1, DHCR7, DLD, FAH, FMO3, G6PC, GAA, GALT, GBA, GBE1, GNPTAB, IDUA, MCCC2, MCOLN1, MMACHC, MMUT, MVK, NAGA, OTC, PAH, PMM2, POLG, SCO2, SLC37A4, SMPD1

Examples of Disorders Linked

Gaucher disease, Galactosemia, Phenylketonuria, Wilson disease, Glycogen storage diseases, Tyrosinemia, Pompe disease, Mucopolysaccharidoses, Mitochondrial disorders, Niemann–Pick disease

Neurological and Neurodevelopmental Disorders

Most Important Genes We Identify

AFF2, AHI1, ANO10, ARSA, ARX, ASPA, DMD, DYNC2H1, ELP1, ERCC2, FXN, L1CAM, MCPH1, MID1, MLC1, RARS2, RNASEH2B, RPGR, TMEM216

Examples of Disorders Linked

Duchenne/Becker muscular dystrophy, Friedreich ataxia, Joubert syndrome, Metachromatic leukodystrophy, Aicardi-Goutières syndrome, Canavan disease, Pontocerebellar hypoplasia

Neuromuscular Disorders

Most Important Genes We Identify

CHRNE, CLCN1, FKRP, FKTN, NEB

Examples of Disorders Linked

Congenital myasthenic syndromes, Myotonia congenita, Walker–Warburg syndrome, Limb-girdle muscular dystrophies, Nemaline myopathy

Hematological Disorders

Most Important Genes We Identify

F8, F9, HBA1, HBA2, HBB, FANCC, TF, PRF1, HPS1, HPS3

Examples of Disorders Linked

Hemophilia A/B, α- and β-thalassemia, Sickle cell anemia, Fanconi anemia, Hermansky–Pudlak syndrome, Atransferrinemia

Endocrine and Reproductive Disorders

Most Important Genes We Identify

AIRE, CYP11A1, CYP21A2, NR0B1, ABCC8

Examples of Disorders Linked

Congenital adrenal hyperplasia, Adrenal insufficiency, Autoimmune polyendocrinopathy, Neonatal diabetes

Skeletal and Connective Tissue Disorders

Most Important Genes We Identify

ALPL, EVC2, SLC26A2, TNXB

Examples of Disorders Linked

Hypophosphatasia, Chondroectodermal dysplasia (Ellis–van Creveld), Achondrogenesis Ib, Ehlers–Danlos-like syndrome

Sensory Disorders (Vision / Hearing)

Most Important Genes We Identify

BBS1, BBS2, CEP290, CNGB3, CLRN1, GJB2, OCA2, PCDH15, RS1, TYR, USH2A, XPC

Examples of Disorders Linked

Retinitis pigmentosa, Usher syndrome, Leber congenital amaurosis, Achromatopsia, Albinism, Non-syndromic deafness, Xeroderma pigmentosum

Renal Disorders

Most Important Genes We Identify

NPHS1, PKHD1, AGXT

Examples of Disorders Linked

Polycystic kidney disease, Finnish congenital nephrotic syndrome, Primary hyperoxaluria

Cardiovascular and Muscular Disorders

Most Important Genes We Identify

FKTN, FKRP, DMD, GLA

Examples of Disorders Linked

Dilated cardiomyopathy, Fabry disease, Muscular dystrophies

Immune and Inflammatory Disorders

Most Important Genes We Identify

AIRE, MVK, PRF1, RNASEH2B

Examples of Disorders Linked

Hyper-IgD syndrome, Autoimmune polyendocrinopathy, Familial hemophagocytic lymphohistiocytosis, Aicardi-Goutières syndrome

Dermatological and DNA-Repair Disorders

Most Important Genes We Identify

COL7A1, ERCC2, XPC

Examples of Disorders Linked

Epidermolysis bullosa, Trichothiodystrophy, Xeroderma pigmentosum

Developmental and Multisystem Syndromes

Most Important Genes We Identify

BBS1, BBS2, CC2D2A, CEP290, DYNC2H1, GRIP1, LRP2, TMEM216

Examples of Disorders Linked

Bardet-Biedl syndrome, Meckel syndrome, Joubert syndrome, Donnai–Barrow syndrome, Ciliopathies

Respiratory Disorders

Most Important Genes We Identify

ABCA3, CFTR

Examples of Disorders Linked

Surfactant metabolism dysfunction, Cystic fibrosis

The Most Common Genetic Conditions Identified Through Carrier Screening

Carrier screening helps determine whether an individual carries genetic variants that could increase the risk of passing on certain inherited conditions to their child. Thanks to significant advancements in genomics, today’s screening panels can detect hundreds of conditions with exceptional accuracy, providing valuable insights for family planning and early intervention.

At Phenome Longevity, our carrier screening test analyses key genes associated with serious inherited disorders. Results are presented in a clear, clinically reviewed report that supports both partners in understanding their combined genetic profile and making informed reproductive choices.

Below are some of the most well-known and clinically significant conditions included in our carrier screening panel:

Cystic Fibrosis (CFTR)

Cystic Fibrosis is one of the most common inherited conditions, affecting the lungs and digestive system due to mutations in the CFTR gene. It leads to thick mucus production, chronic respiratory infections, and digestive complications. Carrier screening identifies individuals who carry CFTR mutations, allowing couples to make informed reproductive decisions before pregnancy.

Spinal Muscular Atrophy (SMN1)

Spinal Muscular Atrophy is a genetic condition that affects motor neurons in the spinal cord, leading to progressive muscle weakness and mobility loss. It is caused by mutations in the SMN1 gene. Detecting carriers before conception provides critical insight into potential risks and available reproductive options.

Fragile X Syndrome (FMR1)

Fragile X Syndrome is the most common inherited cause of intellectual disability and autism spectrum features. It is caused by expansions in the FMR1 gene. Carrier testing identifies individuals with gene changes that may not affect their own health but can be passed to future generations.

Sickle Cell and Thalassaemia (HBB, HBA1, HBA2)

Sickle Cell Disease and Thalassaemia are inherited blood disorders that affect haemoglobin production. They are more common in individuals of African, Mediterranean, Middle Eastern, and South Asian ancestry. Identifying carriers of HBB, HBA1, or HBA2 mutations enables early awareness and reproductive planning.

Tay-Sachs Disease (HEXA)

Tay-Sachs is a rare but severe genetic condition caused by mutations in the HEXA gene, leading to progressive damage to nerve cells in the brain and spinal cord. Carrier screening allows individuals to determine their risk and explore preventive reproductive options before conception.

The Science Behind

Whole Genome Sequencing

Whole Genome Sequencing is a scientific method that reads and analyses your complete genetic code to identify variations that may be passed on to future generations.

Every cell in your body contains DNA, which acts as an instruction manual for how your body functions. By examining all three billion letters of your DNA rather than only selected regions, this technology provides a comprehensive view of your genetic makeup.

For carrier screening, it helps detect even rare inherited variants, giving you a clear understanding of your reproductive health and empowering informed decisions for your family’s future.

Differences between Traditional Gene Analysis and Whole Genome Sequencing (WGS)

We Care About Helping You Understand Your Genes

Learn how knowing your genetic carrier status can bring clarity and confidence to your family planning journey. At Phenome Longevity, we turn complex science into personalised insights designed to support your wellbeing and future.

The Science: Explained

Stories from Those Who Finally Got Answers

We are grateful to everyone who shared their journey with us. Their honesty reminds us why understanding our biology matters, because behind every test result there is a story of someone finally getting the answers they have been looking for.

My partner and I wanted to do this before trying for a baby. We were nervous at first, but the process felt surprisingly calm. Seeing our results side by side was a huge relief. It made us feel ready in a way that guessing never could.
— Emily and Noah S, 31
I’ve always been curious about my family health history, especially since no one really talks about it. The test made me realise I carry something I’d never have known otherwise. It wasn’t scary, just grounding to know.
— Julia M, 33

We went through this after a recommendation from our doctor. It was emotional but also empowering. Knowing what we carry doesn’t define us, it just helps us make choices with more confidence.

— Rachel L, 35
I was honestly scared to take the test, but the genetic counsellor explained everything so clearly that all my worries disappeared. It felt so personal and human, not technical at all. I left the call feeling grateful and confident about the future.
— Hannah C, 29

How We Keep Your Data Safe

Visit Privacy Policy

Your carrier data is treated with the same care as your medical records. From the moment your sample is received, all personal and biological information is stored securely and processed in full accordance with the EU General Data Protection Regulation (GDPR).

We use encrypted systems, anonymised identifiers, and strict internal protocols to ensure your data is never shared or sold and only used to generate your personalised report.

You are always in control and your data remains yours.

FAQs

Please read our FAQs page to find out more.

What is the Phenome Longevity Carrier Screening Test?

Our Carrier Screening Test is a comprehensive genetic test that identifies whether you carry genetic variants that could be passed on to your children. While carriers are typically healthy, they can unknowingly pass on serious inherited conditions. This test helps individuals and couples make informed decisions about family planning by identifying their risk for transmitting genetic disorders.

How does the test work?
  1. Collect a saliva sample using the swab in your test kit.
  2. Send your sample back to our certified lab following the detailed instructions.
  3. Our team performs a high-resolution genetic analysis to detect carrier status for hundreds of inherited conditions.
  4. You will receive a personalised report within 3 weeks in the Phenome Longevity App. You can optionally book a consultation with one of our experts for further support and guidance.
Who should take this test?

This test is recommended for:

  • Individuals or couples planning to have children
  • People with a family history of genetic conditions
  • Individuals from populations with higher carrier risk for specific conditions (e.g., Ashkenazi Jews, Mediterranean African, Southeast Asian descent.)
What are the benefits?
  • Gain clarity about your carrier status for hundreds of inherited conditions.
  • Make informed family planning decisions with the help of expert insights.
  • Reduce the risk of passing on serious genetic conditions to future children.
  • Access expert support through optional consultations for understanding and next steps.
  • Feel empowered with personalised, preventative genetic information.
How common are these conditions?

While individual genetic conditions are rare, collectively they are more common than many realise. Around 1 in 30 couples is at increased risk of having a child affected by a genetic condition​.

Can I rely on family history instead?

Not entirely. Most people who carry a genetic condition have no family history of it. Genetic screening can reveal hidden risks that family history alone cannot detect.

If I already know a condition runs in my family, should I still do this?

Yes. Even if you're aware of a specific condition, this test can screen for additional inherited conditions you may not know about.

Can I take this alongside other pregnancy tests like NIPT?

Yes. Carrier screening can be done alongside chromosome testing (like NIPT), but they serve different purposes. NIPT looks at chromosome conditions, while carrier screening looks at inherited single-gene variants.

What happens if my results indicate a higher risk?

Phenome Longevity provides tools to help you access and understand personal health data, but we are not a diagnostic entity and do not provide medical advice. If your results suggest a higher genetic risk, we can arrange a consultation with a qualified healthcare professional or genetic counsellor who can guide you through your options and next steps.

When should I take and send my sample?

Please collect your sample between Monday and Thursday (Royal Mail). Be sure to return it on the same day using the prepaid return envelope, ideally before midday. Avoid collecting your sample on or near public holidays to prevent delays.

Where can I see my results?

Your results will be automatically uploaded to your secure profile on our app, created using the email address you provided at checkout. You’ll also receive an email notification with a direct link to view your results. Through the app, you can explore your full report and even download it as a PDF whenever you like.

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