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Polycystic Kidney Disease

Inherited kidney cysts affect thousands across the UK. A targeted NGS gene panel can confirm your diagnosis and guide personalised care.

PKD Genetic Panel from £930

Genes Tested:

DNAJB11
DZIP1L
GANAB
PKD1
PKD2
PKHD1
ALG5
ALG9
IFT140
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PKD Genetic Panel from £930
Medically reviewed by Ailidh Watson, Lead Genetic Counsellor·Last reviewed January 2026
1 : 1,000

People in the UK have Autosomal Dominant PKD - that's over 60,000 people

PKD is one of the most common inherited kidney conditions, affecting all sexes and ethnicities equally.

50%

Of PKD1 patients need kidney replacement therapy by age 60

Autosomal Dominant PKD is the leading inherited cause of end-stage kidney disease worldwide, accounting for 5–10% of all dialysis cases.

93%

Of Autosomal Dominant PKD cases are caused by mutations in the PKD1 or PKD2 genes

PKD1 mutations account for ~78% of cases and are associated with more severe disease. PKD2 mutations make up ~15% and typically follow a milder course with later onset.

10-15%

Of Autosomal Dominant PKD patients have no known family history of the condition

De novo gene variants mean PKD can appear without any prior family diagnosis - making genetic testing relevant even without a family history.

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What is Polycystic Kidney Diesease?

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 include:

  • Bilateral kidney cysts visible on imaging
  • High blood pressure
  • Back or side pain
  • Blood in urine
  • Swollen abdomen
  • Liver cysts (in ADPKD)
  • Enlarged kidneys (particularly in ARPKD)

Like many hereditary conditions, PKD can be present for years before symptoms become apparent. Early genetic testing can identify a causative variant before significant kidney damage has occurred, enabling closer monitoring, earlier intervention, and more informed family planning decisions. If you are experiencing any symptoms that are worrying you, it is important that you report this to your GP.

More information about PKD can be found on NHS1, NHS2.

What are the causes?

PKD is caused by inherited variants in specific genes. ADPKD is primarily caused by variants in PKD1 or PKD2. ARPKD is caused by variants in PKHD1 and other genes including DZIP1L. Additional genes such as DNAJB11 and GANAB are associated with atypical presentations. Because these variants are inherited, a family history of PKD is a key risk factor.

In 10–15% of ADPKD cases, there is no known family history - the mutation has occurred spontaneously for the first time in that person. This means PKD can appear even without any relatives being affected, making genetic testing valuable even when family history seems clear.

Is genetic testing for PKD right for me?

This panel is recommended for anyone with a personal history of polycystic kidney disease - particularly if renal imaging has shown bilateral cysts, if there is an existing clinical diagnosis, or if symptoms such as hypertension, kidney dysfunction, or enlarged kidneys are present. Identifying a specific gene variant can confirm a diagnosis, clarify inheritance patterns, and inform treatment and family planning decisions. Finding a genetic diagnosis can also enable other at-risk family members to access genetic testing and screening, where relevant. With ≥99% coverage at 20x depth across all 9 genes, this panel provides a highly accurate diagnostic solution.

If you have a family history of PKD and aren't sure if this test is right for you, we would recommend booking a genetic counselling appointment to discuss your family history and testing options. We would always recommend testing a symptomatic family member first, for the most informative genetic test. If you carry a PKD gene change, there's a 50% chance (NCBI) it could be passed on to your child - therefore, understanding your genetics before starting a family can help you make confident decisions.

‍

Disclaimer! The information provided in this article is for educational purposes only. 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. Sources used: NCBI, UK Kindney Association, NHS.

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Frequently Asked Questions

Who is eligible for PKD genetic testing?

At Jeen, 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. Even if you feel completely healthy, testing can reveal a gene variant you wouldn't otherwise know about. Our expert team will help you decide whether testing is right for you during your genetic counselling consultation.

Is it worth getting genetic testing for PKD?

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. It's not just a test - it's a head start.

What genes does the PKD panel test?

The panel sequences nine of the most common genes known to cause PKD: PKD1, PKD2, PKHD1, DNAJB11, DZIP1L, GANAB, ALG5, ALG9, and IFT140. These cover both the dominant (ADPKD) and recessive (ARPKD) forms of the condition.

PKD1 and PKD2 account for the vast majority of ADPKD cases. The additional genes catch rarer or atypical presentations that standard testing might otherwise miss, giving you a comprehensive overview of the most clinically significant genetic causes. More on how genomic testing works for PKD.

Who should get genetic testing for PKD?

You should consider testing if a parent, sibling, or close relative has been diagnosed with PKD, or if kidney imaging has shown cysts without a clear explanation. It's also worth testing if you've had unexplained high blood pressure at a young age, recurring flank pain, or blood in the urine.

Even without obvious symptoms or family history, PKD can arise from a spontaneous mutation. Testing brings clarity regardless of your starting point.

When is the right time to get tested?

it depends on your personal situation. If you have a family history of PKD, a kidney scan showing cysts, or symptoms such as flank pain or high blood pressure, that's a natural point to consider testing. Speaking to a genetic counsellor can help you weigh up whether it makes sense for you.

If you're planning a family and a close relative has been diagnosed with PKD, testing can be a useful conversation to have - it helps you understand your own status before making reproductive decisions, including options like preimplantation genetic testing (PGT) during IVF.

Is at-home PKD genetic testing reliable

Jeen's at-home PKD testing uses the same clinical-grade NGS technology as hospital laboratories. We work with accredited lab Fulgent Genetics, achieving ≥99% coverage at 20x depth across all nine genes - the same standard used in NHS-referred testing.

Completed via a simple cheek swab - no clinic visit needed.

You'll also have full support from our genetic counsellors before, during, and after testing - so your results are not just accurate, but clearly explained and actionable.

How accurate is PKD genetic testing?

The panel uses Next Generation Sequencing with deletion/duplication analysis included, designed to detect both small sequence variants and larger structural changes in the genes. Coverage is ≥99% at 20x depth, which is a high clinical standard.

As with all sequencing technologies, some rare variant types - such as deep intronic changes or repeat expansions, may not be detected. Our genetic counsellors will explain what the results do and don't cover so you have a complete picture. You can also learn more about how NGS works.

How often is PKD monitoring done?

Monitoring is tailored to the individual - those with a confirmed diagnosis or known family history are typically offered regular kidney ultrasounds and blood pressure checks. The UK Kidney Association recommends bi-annual blood pressure checks from as early as age five to ten in those at risk. That's where genetic testing comes in - knowing your gene variant helps clinicians personalise your monitoring schedule and identify how quickly your disease is likely to progress, rather than taking a one-size-fits-all approach.

Is PKD genetic testing available on the NHS, and how does Jeen compare?

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, like Jeen's, is available without a referral, covers nine key PKD genes, and returns results in 2-3 weeks. Your package includes genetic counselling, so you will ll have expert guidance to understand your results and next steps - without delay.

How much does genetic testing for PKD cost?

Jeen's genetic testing for PKD is priced at £930. This all-inclusive cost covers your at-home buccal swab kit, lab analysis using high-depth NGS sequencing, and a personalised consultation with one of our expert genetic counsellors.

The test analyses 9 clinically relevant PKD genes, each backed by strong scientific evidence linked to polycystic kidney disease risk. You'll get accurate insights into your inherited risk and support to help you decide on next steps with no extra charges or referrals needed.

Sources & references

The statistics and clinical claims on this page are supported by the following authoritative sources.

  • NHS
  • NCBI
  • NCBI / PMC
  • NCBI

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