Polycystic Kidney Disease

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.

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.

The panel sequences six of the most common genes known to cause 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. 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.

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.

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.

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 six 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.

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.

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.

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 six 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.

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 6 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.