Siberian cat health testing: what to ask your breeder

Our own kitten-choosing checklist tells you to ask for an HCM echocardiogram and a PK-deficiency DNA test on both parents. That is the right first question, but "tested" can mean very different things depending on who ran the test, when, and how the result was recorded. This page is the deeper version: what a real HCM result should include, how the PK-deficiency DNA test actually works, and a third condition, PKD, that breed-club resources treat differently in Siberians than in other breeds.

HCM: what "100% tested" should actually document

This site's own kitten section states that 100% of parent cats are HCM and PK-deficiency tested. Treat that as a starting point, not the finish line, and ask the cattery to show you what the result actually says.

Hypertrophic cardiomyopathy, a thickening of the heart wall, cannot be reliably ruled out with a stethoscope alone. The only real screening tool is an echocardiogram, and breed-club health programs typically require the images be read by a board-certified veterinary cardiologist rather than a general practice vet. A single clear scan does not settle the question permanently, either. Breed-club guidance from the International Siberian Breeders Club recommends testing breeding cats at 1, 3, and 5 years old, then again every 2 to 3 years after that, because HCM can develop or progress at any age. A cat that stays clear through the 1, 3, and 5 year checkpoints is considered unlikely to pass the condition on. A single scan at one age is not the same thing as that full track record.

When you ask a breeder about HCM testing, ask for the date of the most recent echocardiogram, the name of the cardiologist who read it, and whether the parent has been rescreened since the first clear result.

PK deficiency: what the DNA test is actually checking

PK deficiency, short for pyruvate kinase deficiency, is an inherited blood disorder. Affected cats lack enough of an enzyme red blood cells need, which leads to intermittent hemolytic anemia, weakness, weight loss, and in some cats jaundice or an enlarged abdomen. Unlike HCM, this one is a straightforward DNA test, usually a cheek swab or blood sample sent to a genetics lab such as MyCatDNA, and it does not require repeat testing once a cat's result is known. DNA does not change from year to year.

The condition is recessive, so a result comes back as one of three outcomes. A clear cat carries no copies of the mutation and cannot pass it on. A carrier has one copy, will not get sick, but can pass the mutation to kittens. An affected cat has two copies and can develop the anemia. The real risk shows up when two carriers are paired: each kitten in that litter has roughly a 25% chance of inheriting two copies and being affected. That is exactly why a DNA panel on both parents matters more than a panel on just one.

PKD: the condition that needs a different kind of check

A third condition worth knowing about is polycystic kidney disease, PKD, fluid-filled cysts that form in the kidneys and can eventually lead to kidney failure. PKD is best known in Persian and Persian-descended breeds, and it shows up in Siberian lines less often, but it is still worth understanding because the usual DNA test does not work the same way here.

The standard PKD DNA test looks for a specific mutation identified in Persian cats. Breed-specific resources such as Siberian Cat Portal note that this test was not developed or validated for Siberians, so a negative Siberian result carries less certainty than the same result would in a Persian. Because of that gap, a periodic kidney ultrasound, not the DNA panel alone, is considered the more reliable check for this particular condition in this particular breed. If a breeder mentions PKD testing, ask whether it was a DNA panel, an ultrasound, or both, and treat a DNA-only answer as a partial one.

How to verify what a breeder shows you

None of this is complicated to check. It just takes asking for specifics instead of accepting a general "yes, they're tested."

• Ask for the date of the most recent HCM echocardiogram and the name of the cardiologist who read it, not just "the vet checked."
• Ask to see the actual PK-deficiency DNA result, clear, carrier, or affected, for both parents, not a verbal summary.
• Ask whether PKD was checked by ultrasound, DNA panel, or both, since the DNA test alone is a weaker signal in this breed.
• If a breeder can't produce dates, specialist names, or lab results on request, treat it the same way our red flags list treats vague answers about health testing: a reason to keep looking.

Our own care guide covers what to ask your vet once your kitten is home, including why some owners choose periodic cardiac rechecks well into adulthood even after the parents tested clear. And the full kitten-choosing checklist treats vague answers about health testing as a red flag on its own, not a minor omission, for exactly this reason.