Kidney cancer genetic testing — what the test shows, and what it means for your family

It looks for an inherited change in one of the genes already known to make kidney tumours more likely, among them VHL, MET, FLCN, FH, the SDH genes and the genes behind tuberous sclerosis. Laboratories usually run these together as a panel rather than testing one gene at a time. The sample is blood from a vein, and sometimes saliva; there is no scan and no procedure involved. Which genes belong on the panel is decided after counselling, from the pathology report and the family pattern, because adding every available gene mainly raises the chance of an ambiguous finding that nobody can act on. The test cannot tell you whether you have cancer now.

Both tests exist and they answer different questions. A germline test uses blood or saliva and reads the DNA you were born with, the copy carried in every cell and the only kind that can be passed to a child. A somatic test is run on tumour tissue and reads faults the tumour picked up during its own lifetime; those faults are not in the rest of your body and are not inherited by anyone. Somatic results can help a medical oncologist understand how a tumour behaves. Only a germline result has anything to say about your relatives. People often arrive holding one report believing it is the other, so ask which was done.

It means the laboratory found a difference in one of the genes tested but cannot yet say whether that difference causes disease. It is not a diagnosis, not a positive result, and not a reason to begin monitoring or to test relatives. Classifications are reviewed as laboratories gather more data, so a variant of uncertain significance can later be reclassified in either direction, which is why your team and the reporting laboratory keep a record of it. In the meantime your care is planned from the pathology, the imaging and the family history, which are the same things that would have guided it had the test never been done.

Once a specific change has been confirmed in one person, relatives no longer need the full panel. They can have a targeted test that looks only for that one change, which gives a clear yes or no and is far quicker to report. Testing normally works outwards from the closest relatives first, meaning parents, brothers and sisters, and adult children, and then follows only the branches of the family where the change is actually found. A branch that tests negative stops there. Who is offered testing, in what order, and when is planned in the counselling appointment, and relatives can be seen at CION centres across Telangana and Andhra Pradesh.

The question is not whether a child can be tested but whether the result would change anything for that child now. For inherited kidney conditions where monitoring is recommended from childhood, testing is offered earlier, because a positive result means planned imaging can begin and a negative result spares that child a lifetime of scans. Where nothing would change until adulthood, testing is usually deferred so the young person can decide for themselves once they are old enough. There is no single right age. It is set by the treating team from the specific condition involved, and discussed with the parents during counselling rather than decided in advance.

Carrying an inherited change is not the same as having cancer, and many carriers never develop a kidney tumour. What changes is that you stop waiting for symptoms. Confirmed carriers and at-risk relatives are offered imaging on a defined schedule set by the treating team, arranged and reported in house at CION, so that anything new is found while it is small. Genetic counselling, diagnosis, planned monitoring and any systemic treatment are led by medical oncology at CION. Where an operation or an ablation is needed, it is coordinated with specialist urology, uro-oncology and interventional radiology partner centres rather than delivered in house.