Test for 6 key Genes linked to polycystic kidney disease with our partner Jeen. Confirm your diagnosis, clarify inheritance, and guide personalised care.
Start with a 45-minute online genetic consultation with our partner, Jeen. We’ll review your medical history and family background.
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We’ll send you a Jeen Kit with everything you need — a swab, collection tube, and pre-paid return envelope. Simply follow the instructions and post your sample back to us.
In 2-3 weeks, your results will be ready. A genetic counsellor will review them and send you a detailed report with clear, personalised recommendations.
The information provided in this article is for educational purposes only and is based on NHS recommendations. It is not a substitute for professional medical advice. Always consult your doctor or a qualified healthcare provider for advice on medical conditions or treatments.
Testing for polycystic kidney disease can be valuable for anyone with a personal or family history of kidney cysts, unexplained hypertension at a young age, or an existing clinical diagnosis of PKD. Genetic testing identifies the specific gene variant responsible, which helps confirm a diagnosis that imaging alone cannot always provide — particularly in younger patients where cysts may not yet be visible.
Understanding your PKD genetics also enables personalised care. Knowing whether you carry a PKD1 or PKD2 variant can help your specialist predict how quickly the disease may progress and tailor your monitoring schedule accordingly. It also opens up informed family planning options, including preimplantation genetic testing (PGT) during IVF.
Over 90% of polycystic kidney disease cases are caused by inherited variants in just two genes — PKD1 and PKD2 (NCBI). If you or a family member have kidney cysts, unexplained high blood pressure, or a clinical diagnosis of PKD, a genetic test can confirm whether a hereditary variant is responsible.
PKD is an inherited condition causing fluid-filled cysts to develop in the kidneys. There are two main forms: autosomal dominant (ADPKD), which is generally late-onset, and autosomal recessive (ARPKD), which typically presents in infancy or childhood. Beyond the kidneys, PKD can affect multiple organ systems. Hypertension is the most frequent initial presentation, occurring in 50–70% of cases (NCBI), often years before the kidneys show any signs of damage.
Signs and symptoms of PKD:
PKD affects at least 1 in 1,000 people in the UK — that's over 60,000 individuals (UK Kidney Association). Men and women are equally likely to inherit PKD, though men tend to experience faster progression to kidney failure. In 10–15% of cases, there is no known family history, meaning the mutation has occurred spontaneously (NCBI).
We’ve partnered with Jeen, a trusted provider of clinical genetic counselling specialising in hereditary conditions. Sessions are 45 minutes and take place online for convenience and privacy. In-person sessions are also available at Spital Clinic for an additional fee. Jeen counsellors provide clear, compassionate support every step of the way.
PKD genetic counselling is a specialised service that helps individuals and families understand inherited kidney disease risks. A genetic counsellor evaluates your personal and family medical history to determine whether genetic testing is appropriate, discusses the benefits and limitations of testing, and guides you through your options.
Engaging in PKD genetic counselling empowers you to understand your genetic status, enabling closer monitoring, earlier access to treatments like tolvaptan, and informed family planning decisions. If a gene variant is identified, it can also enable at-risk family members to access targeted testing and screening, where relevant.
Risk factors for PKD include a family history of the condition, an existing clinical diagnosis, or unexplained symptoms such as early-onset hypertension or kidney cysts on imaging. Understanding your risk through genetic counselling can help you take proactive steps to manage your health.
Genetic counselling can have a profound impact on your life. It provides clarity about your kidney health, helps you make informed decisions about monitoring and treatment, and supports family planning. Approximately 50% of individuals with ADPKD reach end-stage kidney disease by age 60 (NCBI)— knowing your variant early can help you and your specialist plan ahead, rather than reacting to symptoms as they appear.
Spital Clinic, through our partner Jeen, offers a targeted PKD gene panel that analyses six of the most clinically significant genes associated with polycystic kidney disease:
Genes linked to Autosomal Dominant PKD (ADPKD):
Genes linked to Autosomal Recessive PKD (ARPKD) and related conditions:
The panel achieves ≥99% coverage at 20x depth across all 6 genes, providing a highly accurate diagnostic solution.
We provide a comprehensive range of services, from private GP consultations and specialised men's and women's health care to advanced ultrasound scans and proactive health screenings, all within a reassuring and state-of-the-art environment.
You have a question about Genetic Counselling? We have an answer.
At Spital Clinic, PKD genetic testing is available to anyone who wants to understand their inherited kidney disease risk - especially if you have a personal or family history of polycystic kidney disease, or if a kidney scan has shown cysts. You don't need a referral or a confirmed diagnosis. Our partner Jeen will help you decide whether testing is right for you during your genetic counselling consultation.
Yes —- because it gives you answers you can act on. PKD can be present for years before symptoms appear, and by the time kidney damage is detectable on a scan, the disease may have already been progressing silently. Knowing your genetic status early means you can start monitoring, manage blood pressure proactively, and access treatments like tolvaptan that can slow cyst growth.
The panel sequences six of the most common genes associated with PKD: PKD1, PKD2, PKHD1, DNAJB11, DZIP1L, and GANAB. These cover both the dominant (ADPKD) and recessive (ARPKD) forms of the condition. PKD1 and PKD2 account for the vast majority of ADPKD cases. More on how genomic testing works for PKD (link to NHS Genomics Education).
PKD genetic testing is available on the NHS if you meet certain criteria, such as a strong family history or clinical symptoms. Your GP or specialist can refer you to a genetic counselling service, but NHS genetic testing is not routinely offered and may involve waiting times of up to a year. Private genetic testing through Spital Clinic and Jeen is available without a referral, covers six key PKD genes, and returns results in 2–3 weeks. Your package includes genetic counselling.
The panel uses Next Generation Sequencing with deletion/duplication analysis, designed to detect both small sequence variants and larger structural changes. Coverage is ≥99% at 20x depth, which is a high clinical standard. As with all sequencing, some rare variant types may not be detected. Your genetic counsellor will explain what the results do and don't cover.
No. ADPKD cannot skip a generation. If a parent carries the variant, each child has a 50% chance of inheriting it. However, because symptoms may not appear until age 30–50, some people are unaware they carry the gene, which can give the impression it has skipped a generation. In 10–15% of cases, PKD arises from a spontaneous new mutation with no prior family history (NCBI).
Yes. PKD is a systemic condition. Liver cysts are the most common extra-renal feature, increasing in number with age and particularly in women. Less commonly, PKD can cause cysts in the pancreas, intracranial aneurysms (weakened blood vessels in the brain), heart valve abnormalities such as mitral valve prolapse, and abdominal hernias (NCBI). This is why PKD management involves more than just kidney monitoring.
Both cause ADPKD, but PKD1 variants, which account for around 78% of cases, are generally associated with earlier onset, larger kidneys, and faster progression to kidney failure (median age 54 years). PKD2 variants make up around 15% of cases and typically follow a milder course, with kidney failure occurring much later if at all (median age 74 years) (NCBI). Knowing which gene is affected through genetic testing helps your specialist predict your disease trajectory.
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Our medical centre is at 36 Spital Square, E1 6DY, City of London.
