Genetic Diseases

Genetic disease panels are targeted tests that analyse a specific set of genes known to cause a particular inherited condition. Unlike broader carrier screening - which checks whether you carry recessive variants that could affect your children, genetic disease panels are diagnostic, focusing on clinically relevant genes with strong scientific evidence to confirm a specific condition in you personally. For example, our Polycystic Kidney Disease panel analyses 9 genes directly linked to PKD, giving accurate, actionable answers for diagnosis and family planning.

The right test depends on your personal and family history, any existing symptoms, and what you're hoping to learn. Our genetic counsellors will guide you through this during your initial consultation. If you have a confirmed diagnosis or strong family history of a specific condition, a targeted genetic disease panel is usually most informative. If you're planning a family without a specific concern, carrier screening may be more appropriate. If you're already pregnant and want to screen the baby for chromosomal conditions, our NIPT options would be a better fit.

Carrier screening checks whether you carry hidden gene variants that could be passed to your children - it's mostly used before or during pregnancy to assess reproductive risk. A genetic disease panel, on the other hand, is diagnostic: it confirms whether you personally have a specific inherited condition by analysing the genes most strongly linked to that disease. Genetic disease panels are typically used when there's already a clinical suspicion or family history. If you're unsure which applies to your situation, book a genetic counselling consultation and our team will help you decide.

Yes. Our panels use Next Generation Sequencing with deletion/duplication analysis, achieving ≥99% coverage at 20x depth - the same clinical standard used in NHS-referred testing. As with all sequencing technologies, some rare variant types (such as deep intronic changes or repeat expansions) may not be detected. Your genetic counsellor will explain exactly what the test does and doesn't cover. You can also read more about how we interpret test statistics like sensitivity and specificity.

Results typically take 2–3 weeks (14–21 days) from when your sample reaches the lab. We'll keep you updated throughout and book your follow-up genetic counselling session to explain your results once they're ready. For faster prenatal screening during pregnancy, our NIPT tests deliver results in as little as 2-4 working days from when your sample reaches the laboratory.

No. Jeen's genetic disease panels are available without a GP referral. You can book your initial genetic counselling consultation directly, and our team will guide you through the testing pathway that fits your clinical picture. If you'd like to speak to a GP alongside your genetic testing - for example to discuss symptoms, medications, or lifestyle factors - you can book a consultation with our partner Spital Clinic.

Targeted genetic testing is available on the NHS if you meet specific criteria - such as a strong family history, confirmed clinical symptoms, or specialist referral. However, NHS genetic testing often involves waiting times of up to a year, and not all conditions are routinely tested. Jeen's private testing is available without a referral, delivers results in 2–3 weeks, and includes expert genetic counselling as standard - so you get both the diagnosis and the expert guidance to act on it, without delay.

Your dedicated Genetic Counsellor will walk you through exactly what the finding means for your health, monitoring needs, and family. Depending on the specific condition, they may discuss early treatment options, closer monitoring, reproductive options including IVF with preimplantation genetic testing (PGT), and cascade testing for at-risk family members. For complex findings, you may also be referred to our Clinical Geneticist for more detailed medical guidance. If you're planning a pregnancy, our partner clinic London Pregnancy Clinic can support you from pre-conception through to delivery.

Yes. At Jeen Health, your data is encrypted and stored securely on our GDPR-compliant servers, as well as with our vetted laboratory partners. Your results are only shared with you and your dedicated Genetic Counsellor - never with insurers or third parties. You can read our full data protection practices in our Privacy Policy.

Yes - predictive testing is an option if you want to understand your genetic risk before symptoms appear. Many inherited conditions, including around 10-15% of PKD cases, can be caused by spontaneous (de novo) gene variants, meaning they can appear without any relatives being affected. Our genetic counsellors will help you decide whether predictive testing is right for you based on your personal situation. If you're also interested in hereditary cancer risk, you might want to explore our cancer genetic screening options.

Genetic testing is available on the NHS, but access is tightly restricted - you'll typically need a GP or specialist referral, a confirmed family history, or documented symptoms to qualify, and even then waiting times can stretch to 12 months or longer before you see a clinical geneticist, with additional time on top for the test itself. For many patients, that's a year of uncertainty while conditions can progress silently in the background. Our targeted genetic disease panels are available privately without a referral and delivering results within 2–3 weeks, with expert genetic counselling included.

X-linked conditions are genetic disorders caused by changes in genes found on the X chromosome, one of the two sex chromosomes. Since males only have one X chromosome (and one Y), if they inherit a gene variant on the X chromosome, they’re more likely to be affected by the condition. Females have two X chromosomes, so if one carries a faulty gene, the other can often compensate, which means women are usually carriers without symptoms.

Some common X-linked conditions include Duchenne muscular dystrophy and fragile X syndrome. If you’re a female carrier of an X-linked condition, there’s a 50% chance of passing the gene to each child. Sons who inherit it are more likely to be affected, while daughters may become carriers like you.