Pyruvate Kinase Deficiency in Cats: the PKLR DNA Test, the Anaemia That Comes and Goes, and What Testing Costs in India

Signs of Erythrocyte pyruvate kinase deficiency

The 11 signs to watch for are listed below. Any one of them is a reason to consult your nearby vet; none of them is a diagnosis.

• Lethargy, the commonest owner-noticed sign and the only consistent one
• Diarrhoea, noted in 7 of 14 symptomatic cats in the reference series
• Pale gums, inner eyelids or nose
• Poor, dull or staring coat quality
• Loss of appetite, sometimes because an enlarged spleen crowds the stomach
• Gradual weight loss over months
• Jaundice, a yellow tinge to gums, skin or the whites of the eyes
• Pica, eating litter, soil or other non-food items
• A firm, enlarged spleen the veterinarian can feel
• Weakness or exercise intolerance after mild activity
• Signs appearing after a show, a move, a hot spell or a litter

Breeds on this site that document this condition

Each breed page below carries the figure for this condition with its denominator and its source. The 13 breeds listed are the ones on this site that document it, not a ranking of risk.

What pyruvate kinase deficiency in cats is, and why two copies are needed

Pyruvate kinase deficiency in cats is an inherited haemolytic anaemia in which red blood cells run out of energy and are destroyed early. It is caused by a single change in the PKLR gene, it is autosomal recessive, and a cat needs two copies of the change to be affected.

Pyruvate kinase is the enzyme that catalyses the last energy-yielding step of glycolysis, the conversion of phosphoenolpyruvate to pyruvate. A mature red blood cell has lost its nucleus and its mitochondria, so glycolysis is the only route it has to adenosine triphosphate. Take the enzyme away and the cell has no way to pay for its own housekeeping, its lifespan shortens, and it is destroyed early. That destruction is the disease.

The laboratory that publishes the test describes the result in one sentence worth memorising. Erythrocyte pyruvate kinase deficiency is an inherited haemolytic anaemia caused by insufficient activity of this regulatory enzyme, which results in instability and loss of red blood cells. The Online Mendelian Inheritance in Animals record for the feline disease is OMIA:000844-9685, it lists the mode of inheritance as autosomal recessive, and it dates the key variant to 1997.

The variant, named exactly

The causal change is one base in an intron, and it is worth being able to read it off a certificate. Grahn and colleagues sequenced the whole feline PKLR type-R transcript in 2012 and found a guanine to adenine transition in intron 5, 304 base pairs downstream of the exon 5 splice-donor site and 53 base pairs upstream of the exon 6 splice-acceptor site, written c.693+304G>A. That single base makes the cell splice the message wrongly, deleting the last 13 base pairs of exon 5, which shifts the reading frame and inserts a premature stop at amino acid position 248. The protein that comes out is missing the terminal 57 percent of the mature PKLR type-R enzyme.

Two details in that sentence catch people out. The mutation is intronic, so a test that reads only the coding exons will not see it, and OMIA records the same variant as a splicing defect first identified by Giger and colleagues in 1997 and only fully characterised in 2012. The mechanism by which the intronic change causes the mis-splice has still not been determined Grahn RA, Grahn JC, Penedo MCT, Helps CR.

Why carriers are healthy and two copies are needed

A carrier cat is a healthy cat, and that is the whole difficulty of controlling this disease. A cat with one normal and one variant copy will not develop pyruvate kinase deficiency, but it transmits the variant to 50 percent of its offspring, and two carriers mated together are predicted to produce 25 percent affected kittens. A carrier is heterozygous, meaning it holds one normal and one variant copy, and OMIA records that heterozygous carriers are asymptomatic while expressing only half the normal pyruvate kinase activity.

That is the opposite of how the other famous feline single-gene kidney disease works. Polycystic kidney disease in cats is autosomal dominant, so one copy is enough and there is no carrier state at all, which is why the two conditions need different breeding maths even though both run off one cheap cheek swab. The PKD in cats page sets out the dominant case.

Langford Vets, which runs the United Kingdom scheme, puts the population consequence of a silent carrier state in a single line. A large number of carrier cats can arise in a population before the deficiency is even noticed, and by the time a genetic disease becomes an obvious problem within a population it is much more difficult to control.

The signs, the age they appear, and the day to stop waiting

The signs of pyruvate kinase deficiency in cats are the signs of anaemia, they are vague, and in the largest followed series eleven of twenty-five affected cats never showed any to their owners at all. Where signs did appear they usually started before the cat was three years old.

The reference series is Kohn and Fumi's, which followed 25 PK-deficient Abyssinian and Somali cats in Berlin over 0.8 to 11.3 years, median 4.3. Eleven of those cats, aged 0.8 to 7.8 years with a median of 4.4, showed no signs of disease according to their owners. The other fourteen started showing signs at ages ranging from 0.1 to 5 years, median 1.7.

In those fourteen cats the signs were counted one by one, and the ranking is not what most owners expect. Lethargy appeared in 10 cats, diarrhoea in 7, pale mucous membranes in 6, inappetence in 6, poor coat quality in 6, weight loss in 4, icterus in 4 and pica in 2. Diarrhoea and a dull coat outrank pale gums, which means the presentation that actually walks into a clinic is a scruffy, tired cat with loose stools rather than an obviously anaemic one.

The Australian survey found the same thing from a different angle. Among 60 Abyssinian and Somali cats screened in Sydney and Brisbane, the only consistent historical sign in the affected animals was lethargy. OMIA summarises the published range as an age of onset from one month to five years, and calls both the severity and the age highly variable.

Four owners in the Berlin series detected a relationship between a stressful situation and the appearance of signs, naming exhibitions in two cases, high temperatures in one and general stress in one. One cat that had shown nothing until then died after parturition. Langford Vets records the same pattern and adds that a rapid, severe, life-threatening anaemia can develop, though it appears to be relatively rare among the cases that laboratory is aware of.

Abdominal enlargement is on the laboratory's own list of signs, and it usually means the spleen. Mild to moderate splenomegaly has been described repeatedly in PK-deficient cats, and histopathology of the spleen in two affected Abyssinians showed marked extramedullary haematopoiesis and haemosiderosis caused by chronic haemolysis. A spleen large enough to restrict the stomach can itself cause the inappetence.

Several of these signs point elsewhere far more often than they point here. A cat that has stopped eating and is drooling may be in dental pain, which the tooth resorption in cats page covers. Weight loss with a big appetite in a cat over ten is more likely to be hyperthyroidism in cats. Drinking and urinating more points at chronic kidney disease in cats. Name the breed to your vet, because that is the single fact that moves pyruvate kinase deficiency up the list.

• Photograph the gums in daylight, weekly. Pale mucous membranes were noted by owners in 6 of the 14 symptomatic cats in the Berlin series, and a photograph beats a memory when the change is gradual.
• Weigh the cat on a kitchen scale every month. Weight loss appeared in 4 of those 14 cats, and slow loss over months is the earliest thing most owners can measure at home.
• Write down when the cat last had diarrhoea. Diarrhoea was the second commonest owner-noticed sign, in 7 of 14.
• Note anything that stressed the cat in the preceding fortnight. Shows, travel, a new animal, kittening and heat have all been named as triggers by owners of affected cats.
• Ask the breeder for both parents' PKLR results, by genotype letter. An N/N by N/N mating cannot produce an affected kitten, and an N/K by N/K mating is predicted to produce 25 percent affected.

Why a normal blood test does not rule this out, and what to ask for instead

A normal haematocrit does not rule out pyruvate kinase deficiency, because the anaemia is intermittent and the cat compensates between episodes. In the Berlin follow-up group only 3 of 13 cats were anaemic at every measurement, while 7 swung between normal and anaemic and 3 were never anaemic at all.

This is the single most useful thing on this page, so it goes first. Thirteen of the 25 cats in the Berlin series had between 1 and 9 follow-up examinations, median 3, over 0.2 to 7.3 years. In three of those thirteen the haematocrit was below the reference range at every single measurement, with individual medians of 0.11, 0.21 and 0.28 l/l. Seven had periods with normal values and periods with values between 0.14 and 0.29 l/l. The remaining three never displayed anaemia at any point, with a stable haematocrit over 1, 2.9 and 3.8 years.

Read that again from the owner's side. A genetically affected cat, tested on the wrong day, produces a normal blood report. The laboratory that sells the test states the phenotype the same way, that the anaemia is intermittent, the age of onset is variable and the clinical signs are also variable. Laboklin goes further and says the feline disease differs from the canine one in that affected cats can have a normal life span and only intermittently have anaemia.

The reticulocyte count sees what the haematocrit misses

Ask for an aggregated reticulocyte count, because it stays abnormal when the haematocrit does not. In the Berlin series the absolute aggregated reticulocyte count was raised in 16 of 18 cats tested, with values from 43 to 936 times ten to the ninth per litre against a reference of under 40. Of the 17 cats with reticulocytosis, only 8 were mildly anaemic; the other 9 had haematocrit values inside the reference range. The bone marrow was replacing red cells fast enough to hide the loss, and the only visible trace was the replacement itself.

The Australian survey independently confirms it. All the affected cats in that 60-cat screen had reticulocytosis, with counts from 64 to 390 times ten to the ninth per litre, significantly different from normal and carrier cats at p below 0.001, while only two of them had a regenerative anaemia. Those authors drew the conclusion in plain words, that screening for pyruvate kinase deficiency is indicated before mating and in individual cats of these breeds, even in the absence of anaemia and especially when there is reticulocytosis.

Two rows of that table carry a warning. Bilirubin was inside the reference range in 10 of 15 cats, and the mean osmotic fragility was inside the reference range in 10 of 13. A cat with normal bilirubin, a normal haematocrit and normal osmotic fragility can still be genetically affected, which is why the only definitive answer here is a DNA result and not a blood panel.

Why the anaemia comes and goes at all

Nobody has proved the mechanism, and two credible explanations are on the record. The Kagoshima group that built the real-time PCR assay suggests that because the defect is a splicing error rather than a deletion, the normal and mutant alleles may be expressed in different quantities at different times, which could explain the intermittent signs. The Berlin group offers the clinical version, that stressful situations such as infectious disease, parturition or exhibitions might cause a sudden deterioration by non-specific activation of the macrophage system, damage to erythrocyte membranes, or suppression of haematopoiesis.

Both can be true at once, and neither changes what you do. Test the genotype once, treat the crises as they come, and stop reading a single normal blood report as an all-clear.

Which cats carry it, with the denominator on every figure

Abyssinians, Somalis, Bengals and Singapuras carry the PKLR variant at the highest published frequencies, but the survey that established this genotyped 14,179 cats across 38 breeds and found the variant in 13 of them plus random-bred and unspecified cats. A domestic shorthair is not exempt.

The reference dataset is Grahn and colleagues' 2012 survey, and its size is the reason it settles arguments. They genotyped 14,179 American and European cats representing 38 breeds, plus 76 western random-bred cats and 111 cats of unknown breed, for the c.693+304G>A variant. Across the whole set the variant allele frequency was 6.31 percent, rising to 9.35 percent when only the 15 groups that carried it at all were counted. Twenty-five of the 38 breeds did not carry it.

Two of the samples in that survey were biased on purpose and it matters. Cats submitted specifically for pyruvate kinase testing numbered 3,084 at UC Davis and 1,506 at the British laboratory, while 9,546 and 43 respectively were submitted for other cat DNA tests and so give an unbiased estimate. The unbiased figures below are the ones to quote at a breeder, because the biased ones are inflated by people who already suspected a problem.

Every row above was arithmetic-checked against its own genotype counts on 27 September 2026 and every one of the 19 holds. The three genotype columns sum to the sample size in each row, and each printed frequency equals the counts at the precision the paper printed it to, from 0.414 in the Singapuras down to 0.0008 in the Exotic Shorthairs. Two rows are simply printed to one decimal place where the rest carry three or four, so the Egyptian Mau's 0.1 is 0.125 from its counts and the Norwegian Forest Cat's 0.1 is 0.115, and the table above gives both numbers rather than the rounded one.

One genuine inconsistency survives that check, and it concerns the group most relevant to an Indian owner. The paper's unbiased table prints 0.12 for the 76 random-bred domestic shorthair and longhair cats whose 13 carriers and 1 affected cat work out at 0.0987, its main table prints 0.099 for the identical counts, and its discussion rounds the same group to 11 percent. Three numbers, one set of cats. Use the counts, which give roughly one random-bred cat in ten carrying a copy.

The Abyssinian is the source, and the Abyssinian's descendants inherited the problem

The breed pattern is not random, it is a family tree. Pyruvate kinase deficiency was first documented in an Abyssinian in the United States and then in the Somali, which is the longhaired variety of the Abyssinian. The Bengal, the Egyptian Mau, the Singapura and the Ocicat were all developed using Abyssinian stock, which is why the authors call the introgression of the disease into so many distinct breeds not enigmatic. In an unbiased sample the frequency is about 13 percent in both Bengals and Egyptian Maus, two breeds that used Abyssinians in their development.

The Singapura is the extreme case and the reason is arithmetic. It is numerically one of the smallest breeds, and at 32.7 percent across both countries its variant frequency is 2.6 times that of the remaining affected breeds at 12.47 percent. The authors attribute that either to a high frequency in the founder population or to accidental inbreeding of affected cats during the breed's inception in the 1970s.

The three northern breeds do not fit the family tree and the paper says so. Norwegian Forest cats, Siberians and Maine Coons derive from regional feral populations in Scandinavia, Russia and the United States, so their carriage presents a conundrum; either random-bred founders carried the allele, or a desirable trait was introduced from an affected breed and the allele came with it.

Random-bred and free-roaming cats carry it too

A cat with no pedigree is not automatically clear, and there is now a denominator for that. Grahn's survey found the variant in 13 of 76 random-bred domestic shorthair and longhair cats, one of them homozygous affected. A Hokkaido group then genotyped 443 stray and animal-hoarding mongrel cats and found 26 carriers and one affected cat, an overall allele frequency of 0.0316. That study is the one to cite in India, because its population is the Indian population.

Its geography is the interesting part. None of the 101 cats sampled in Sapporo carried the variant, while 5 of 74 stray cats in Kitami did, an allele frequency of 0.0338, and 21 carriers plus one affected cat turned up among 268 cats in Iburi, an allele frequency of 0.0429. Microsatellite kinship analysis on the carriers found parent-offspring and sibling relationships among them, and the authors conclude that the mutant gene was spread by unregulated interbreeding.

The same breed, a different country, a different risk

Provenance changes the number, and for the Bengal it changes it tenfold. The Kagoshima survey genotyped 205 purebred cats in Japan and found the variant allele frequency at 0.214 in 35 Abyssinians and 0.229 in 48 Somalis, but only 0.016 in 63 Bengals and 0.008 in 59 American Shorthairs. Against the 0.164 recorded for United States Bengals and 0.170 for United Kingdom Bengals, the Japanese Bengal population is roughly one tenth as affected.

The Japanese authors draw the warning that applies directly to India. If cats carrying the mutation are imported from the United States or Europe, where the frequency is much higher, the frequency in the importing country may increase rapidly. An Indian Bengal bought from a cattery whose founders came from a British line is carrying British odds, not Japanese ones, and the only way to know which is to read the parents' certificates.

The Australian screen shows what those odds look like at the level of individual cats rather than alleles. Of 60 Abyssinians and Somalis in Sydney and Brisbane, 3 female Somalis were homozygous affected at 5 percent, 17 cats were carriers at 28 percent and 40 tested normal at 67 percent, giving a mutant allele frequency of 0.19 overall, 0.29 in Somalis and 0.13 in Abyssinians. Pedigree analysis revealed common ancestry among the affected and many of the carrier cats.

The PKLR DNA test: what it detects, at what age, and what it cannot tell you

The PKLR DNA test detects the c.693+304G>A variant itself, at any age, from cells brushed off the inside of a cat's cheek. It is definitive about the genotype and silent about how ill the cat will be.

To test a cat for pyruvate kinase deficiency you swab its cheek, not its vein. Cat DNA tests at the University of California, Davis are carried out using cells brushed from the cat's cheeks and gums with ordinary household cotton swabs, four swab heads in total, each rubbed or rotated between gum and cheek for 15 seconds and then waved in the air for 10 to 15 seconds to dry before being taped to a barcoded submission form printed from the owner's own account. Test kits are no longer mailed.

Three instructions in that protocol are the ones people get wrong, and each of them ruins a sample. The cat must have had nothing to eat or drink for at least one hour beforehand; a kitten must be isolated from its mother, littermates and shared toys for one hour, because the mother's genetic material rubs off in the kitten's mouth and contaminates the sample; and the swab must not pick up saliva or be rubbed on the tongue or teeth, because the point is cheek cells. Wash your hands between cats. Turnaround is at least 15 business days, longer if the sample needs repeating.

What the result cannot tell you

The test reports a genotype, not a prognosis. The laboratory's own wording for a K/K result is that the cat is or will be affected and that the severity of symptoms cannot be predicted and may be variable. Nothing in the certificate says whether this particular cat will be one of the eleven in twenty-five whose owner never notices anything, or one of the six who died or were euthanased.

It also cannot tell you that a cat with anaemia has anaemia because of this. A cat can be K/K and anaemic from something else entirely, and the differential section below sets out what else it is likely to be in India.

The assay has more than one valid recipe

Three published methods all detect the same variant, so a certificate naming an unfamiliar one is still a real certificate. Langford Vets runs a PCR-based pyrosequencing assay that reliably distinguishes Affected, Carrier and Normal cats. The Kagoshima group published a TaqMan probe-based real-time PCR genotyping assay that runs in about 50 minutes and, used with FTA filter-paper cards, returns a result within two hours of sample collection. Grahn's original work used direct sequencing of genomic DNA around intron 5. The screening test predates all three: the Berlin cats were genotyped at the Josephine Deubler Genetic Disease Testing Laboratory of the University of Pennsylvania, and from 2006 at Laboklin in Bad Kissingen EveryCat Health Foundation. Pyruvate Kinase….

One detail should make you check which variant a certificate names. British Shorthairs carry a c.693+303C>T change on the wild-type allele, one single base away from the causal c.693+304G>A, at a frequency of 27.9 percent, and it has no disease association whatsoever. A poorly designed assay reading that neighbourhood could call a perfectly healthy British Shorthair positive. Ask which position the laboratory reports.

Bengals, Savannahs and the wild ancestor

Hybrid breeds need one extra sentence of explanation, and it is reassuring. The Langford test detects the normal and mutant PKLR genes found in domestic cats, works in Bengals and Savannahs, and detects the Asian Leopard Cat or Serval gene if present in an F1 or F2 cat. There is no point testing Asian Leopard Cats or Servals themselves, because the mutant gene came from the domestic cat population, not from the wild one. A Bengal's risk is inherited from its domestic side.

The microchip rule that catches breeders out

For a result that goes on a register the rules are stricter than for a result that satisfies your curiosity. For a cat to be placed on the negative register of International Cat Care or the Governing Council of the Cat Fancy, the mouth swab or blood sample must be taken by a vet who confirms the cat's identity using its microchip number, and that number must be written on both the submission form and the sample. Owners who do not want the cat on a register can take the swab themselves and post it in. Microchipping in India is covered in the pet microchipping in India guide.

What pyruvate kinase deficiency gets mistaken for, and how an Indian clinic tells them apart

Pyruvate kinase deficiency is commonly misread as immune-mediated haemolytic anaemia or as a blood parasite, and in India the blood parasite is by far the likelier answer. Three cheap tests separate them before anyone spends money on a DNA panel.

Start with the base rate, because it decides the order of testing. There are causes of feline haemolytic anaemia that are much more common than pyruvate kinase deficiency, and some of them are fatal, so a veterinarian will want to rule those out before moving to genetic testing, especially if the cat is not a purebred Abyssinian or Somali. The Berlin authors say the same from the other end, that haemolytic anaemia caused by pyruvate kinase deficiency is often incorrectly interpreted as immune-mediated haemolysis.

That misreading has a consequence, not just a label. Because the disease is mistaken for immune-mediated haemolysis or haemoplasmosis, affected cats are frequently treated with corticosteroids or antibiotics, as happened repeatedly in the Berlin series; a transient or partial response was seen in some cats, but the effect was difficult to judge because the disease waxes and wanes anyway. A cat that improves on steroids has not thereby been shown to have an immune-mediated disease.

The osmotic fragility test earns its place on that list and almost nobody runs it. Increased osmotic fragility of erythrocytes is a separate hereditary condition described in the same two breeds with a similar clinical picture, so distinguishing it matters; in PK-deficient cats the mean osmotic fragility was inside the reference range in 10 of 13 tested, mildly raised in two and moderately raised in one. The Berlin authors state that the test can therefore be useful to differentiate the two diseases and may also help distinguish pyruvate kinase deficiency from immune-mediated haemolysis or haemoplasmosis.

The direct Coombs test is the other cheap discriminator. It was negative in several cats with pyruvate kinase deficiency in the Berlin group's unpublished experience, which is exactly what you would expect for a metabolic rather than an immune haemolysis.

In India the tick-borne and blood-parasite differentials deserve to be tested first on prevalence alone. Babesiosis in dogs and tick fever in dogs cover the canine side of that family in detail, and cat ticks and fleas in India covers the exposure that drives it. The feline evidence is thinner: the first molecular and phylogenetic evidence of a novel Babesia species in a naturally infected domestic cat in India was published in 2020, from a three-month-old cat in Kerala with severe anaemia and thrombocytopenia, and the species was named Babesia panickeri.

Transfusion, splenectomy and what the outcome actually is

There is no treatment that corrects the enzyme defect in a cat with pyruvate kinase deficiency, so management is transfusion during a crisis, splenectomy in selected cats, and avoiding the stresses that trigger episodes. Six of the 25 cats in the Berlin series died or were euthanased because of the disease, at ages from 1.3 to 11.3 years.

Therapeutic options are limited, and the published record says so in those words. Nothing on the market restores pyruvate kinase activity in a cat, so every measure below manages the consequences rather than the cause, and none of them is a cure.

Blood transfusion, the measure that saves a life

Transfusion is what carries a cat through a crisis. Blood transfusions can represent a life-saving measure during severe haemolytic crises if the haematocrit falls below roughly 0.10 to 0.15 l/l. It is worth noting how rarely it was needed in that cohort: none of the 25 cats in the Berlin series received a blood transfusion during the whole follow-up.

In India the transfusion has a price and a logistical catch. Bihar Animal Sciences University prices blood transfusion for a canine or feline patient at 2,500 rupees per unit of blood, and adds a footnote that the blood donor will be arranged by the animal owner. At 84.38 rupees to the dollar that is 29.63 dollars and at 74 it is 33.78, so it is a genuine rupee rate rather than a converted list. The practical meaning is that an owner in a crisis needs a second, healthy, blood-typed cat to transfuse from at short notice, and lining up a donor in advance is a reasonable thing for the owner of a K/K cat to do.

Blood type matters here beyond the transfusion itself. The Australian screen typed all 60 Abyssinians and Somalis as type A, but recorded that the commercial blood typing card method incorrectly identified 12 of those cats as type AB, and recommended that any AB-typed cat be retyped by a laboratory technique. A wrong type on a card is a real transfusion risk, and blood type B is common in these breeds worldwide.

Splenectomy, and the honest state of the evidence

Splenectomy is an option in selected cats and the evidence for it is three cats deep. It can be performed in cases of recurrent haemolytic crises or severe splenic enlargement that restricts the expansion of the stomach and causes inappetence, and its objective is to remove one major site of red cell phagocytosis. In one Abyssinian the haematocrit stabilised after splenectomy and the cat survived at least 10 years, and stabilisation of the haematocrit with improvement in general condition was noted in two other cats.

Set against that, Basenji dogs with pyruvate kinase deficiency did not improve clinically after removal of the spleen. Splenectomy is also a recognised option in humans with severe transfusion-dependent pyruvate kinase deficiency, hereditary spherocytosis or autoimmune haemolytic anaemia. Three feline successes and a canine failure is a thin evidence base, and a decision for an individual cat belongs to the surgeon who has examined it.

None of the three Indian university rate cards read for this page prints a line for splenectomy at all. ICAR-IVRI prices laparotomy for a pet animal at 300 rupees and lists no splenectomy. Madras Veterinary College prices minor surgery at 500 rupees, major surgery at 1,500 and specialised surgery at 3,000, and names no individual abdominal procedure. Those tiers are the only public anchor available, and a private Indian clinic will quote its own number.

Avoiding the trigger is the cheapest intervention

To prevent haemolytic crises, stressful situations should be avoided for PK-deficient cats, and that is the one piece of management an owner controls entirely. The triggers owners actually identified were shows, high temperatures, general stress and parturition. For an Indian household two of those are actionable today: keep the cat out of the April to June heat, which the heat safety for cats in India guide covers, and do not breed an affected queen.

What actually happened to the cats

The prognosis is genuinely variable and two credible sources disagree about how good it is. Laboklin states that affected cats can have a normal life span, only intermittently have anaemia, and do not seem to develop either osteosclerosis or liver failure. The Berlin follow-up is less comfortable: at least 6 of 25 affected cats died or were euthanased presumably as a consequence of pyruvate kinase deficiency, at ages between 1.3 and 11.3 years with a median of 4.1, and increased liver enzyme activities were present in 7 of 15 cats tested.

Both statements can be defended and both should be in front of an owner. Nineteen of the 25 cats did not die of the disease during a follow-up that ran up to 11.3 years, which supports Laboklin's optimism. Six did, which is 24 percent of a group that was assembled from cats already known to be affected. The Australian screen contributes one more data point, an affected cat euthanased 18 months after testing because of anaemia, neutropenia, anorexia and weight loss.

The mechanism behind the bad outcomes is worth knowing because it argues for monitoring the liver. Chronic haemolysis causes significant iron overload, liver iron above a critical threshold generates radicals, and iron-catalysed injury damages cell constituents including mitochondria, lysosomes and the sarcolemmal membrane, so chronic haemolysis can lead to hepatocellular damage and finally cirrhosis. Bilirubin gall stones and post-hepatic obstruction are also recognised in PK-deficient cats, so jaundice in one of these cats deserves imaging of the biliary tree and not just a repeat haematocrit Kohn B, Fumi C. Clinical course of pyruvate….

What the PKLR test costs, and every route into it from India

The single PKLR test costs 47 US dollars at the University of California, Davis and 48 pounds including VAT at Laboklin in the United Kingdom. No Indian laboratory sells it on its own, and the one route inside India is a 54-disease feline panel at 17,999 rupees that includes it.

Start with the price at the laboratory that published the variant. UC Davis charges 47 US dollars for one test per animal, with a turnaround of at least 15 business days. It sells the test more cheaply in combination, at 71 dollars with the Bengal PRA-b test for Bengals only, 71 dollars with either the PRA CEP290 or the PRA CRX test for Abyssinians, Somalis and domestic shorthairs, and 95 dollars with both of those progressive retinal atrophy tests together.

Do not assume one laboratory price covers another test at the same laboratory, and do check the specific one. Here the two famous feline single-gene tests happen to match: the PKLR test is 47 dollars and the PKD1 test for polycystic kidney disease is also 47 dollars, both quoted per animal Veterinary Genetics Laboratory. Their package prices differ, because they bundle with different companion tests Veterinary Genetics Laboratory.

The Indian panel, and the arithmetic nobody publishes

Pyruvate kinase deficiency is on the Indian panel, and that is worth saying plainly because most condition pages assume it is not. EasyDNA India sells a CatCheck feline genetic disease test at 17,999 rupees and advertises it as screening more than 75 genetic diseases. The list of items tested, linked from that page as a separate PDF, was counted row by row on 27 September 2026 and holds 68 entries, of which 54 are diseases, 7 are coat colours and 7 are traits; Pyruvate Kinase Deficiency is the 51st disease row.

So two things are true at once. The test an Indian buyer needs is genuinely available without shipping a swab abroad, and the product page overstates its own contents, claiming more than 75 genetic diseases where its own list holds 54 diseases inside 68 total entries EasyDNA India, CatCheck List of Items…. The same discrepancy was recorded on the PKD in cats page for the same panel.

The price comparison is the part no page anywhere makes. AffinityDNA in the United States sells a product also called CatCheck, with the identical claim of more than 75 genetic diseases, blood groups and genetic traits, for 99 US dollars. At 84.38 rupees to the dollar the Indian price of 17,999 rupees is 213.31 dollars, and at 74 it is 243.23 dollars, so it is a real rupee price rather than a converted dollar list. It is also 2.15 times what the American page charges for a panel of the same name, because 99 US dollars at the same rate is 8,354 rupees.

The two lists are not identical either, and the American one is more useful. The AffinityDNA list carries a Gene column and a Breed-if-applicable column, and its entry reads Pyruvate Kinase Deficiency of Erythrocytes, gene PKLR, with no breed restriction. The Indian list names no gene for any row, so a buyer holding it cannot tell which PKLR position the panel actually reads, which matters given the harmless British Shorthair variant sitting one base away Grahn RA, Grahn JC, Penedo MCT, Helps CR.

What the surrounding Indian veterinary care costs

The DNA test is the expensive part only if you ignore everything around it, so here are the public rates. Bihar Animal Sciences University prices a CBC for a feline, canine or equine patient at 300 rupees against 100 for bovine, caprine and ovine, total bilirubin at 150 rupees, and ultrasound for a canine or feline patient at 500 rupees. ICAR-IVRI at Izatnagar, on charges effective from June 2024, prices haematology for a pet at 300 rupees, the haemoprotozoa test at 150 rupees and bilirubin total and direct at 200 rupees, with a dog or cat registration fee of 30 rupees at the normal rate rising to 200 after 12:30 pm and 400 after 5 pm or on holidays.

Madras Veterinary College in Chennai is markedly cheaper on laboratory work and that gap is worth knowing. Its teaching hospital charges 50 rupees for haematology, biochemistry, urine or culture and 100 rupees for small animal registration valid for seven days. Two government teaching hospitals therefore price the same blood count at 50 and at 300 rupees, a sixfold difference, and both figures are published by the universities themselves.

Every rupee figure on this page was run through the exchange-rate test. At 84.38 to the dollar, 17,999 rupees is 213.31 dollars, 2,500 is 29.63, 500 is 5.93, 300 is 3.56, 150 is 1.78 and 50 is 0.59; at 74 the same figures are 243.23, 33.78, 6.76, 4.05, 2.03 and 0.68. None of them lands on a round dollar amount, so none is a converted price list being passed off as an Indian one.

What is different in India, and what nobody has measured here yet

India has no published feline pyruvate kinase deficiency data at all, no cat breeding rule, and a fast-growing pedigree cat population. It also has a national reference laboratory that has been sequencing the same gene in human patients since at least 2006, which is what makes the veterinary silence measurable rather than assumed.

Take the population first, because it explains why this page exists now. Euromonitor data reported by Agriculture and Agri-Food Canada puts the Indian cat population at 4.5 million in 2025, up from 2.4 million in 2020, a compound growth of 13.6 percent a year and the fastest-growing segment of the Indian pet market, against 33.4 million dogs. A rising share of that growth is pedigree cats bought in cities, and the Bengal and the Abyssinian are two of the breeds Indian buyers ask for by name.

The Indian literature search, run twice, with its controls

There is no published Indian study of feline pyruvate kinase deficiency, and here is the search that establishes it. Europe PMC was queried on 27 September 2026 for pyruvate kinase restricted to title and abstract, combined with cat, cats or feline, and combined with India. The title-and-abstract form returned hitCount 0 and the author-affiliation form returned hitCount 2, both of which are artefacts: a 2025 melanoma cell-line paper about the AMPK, PGK1 and PKM2 pathway, and a 2004 study of vanadate and Trigonella in alloxan-diabetic rats. Neither concerns a cat.

Four controls in the same session prove the instrument was working rather than the topic empty. Labrador hip dysplasia returned 110, the standing control for this syntax; canine parvovirus with India in title and abstract returned 45; feline molecular work with India in the affiliation field returned 14 records, including feline panleukopenia virus in Tamil Nadu and Mizoram, the first molecular detection of feline coronavirus from India, and a feline filarial survey in Kerala; and the same pyruvate kinase phrase with India but without the feline clause returned 13. Indian veterinary molecular work on cats exists and is being published. It has simply never touched this gene.

Those 13 human papers are the positive test that makes the veterinary absence meaningful. The National Institute of Immunohaematology of the Indian Council of Medical Research, at the K.E.M. Hospital campus in Parel, Mumbai, studied the PKLR gene in 10 unrelated Indian patients with congenital haemolytic anaemia and found nine different mutations among the 20 mutated alleles, two of them novel. That group reports the most frequent Indian human mutations as c.1436G>A at 18.33 percent, followed by c.992A>G and c.1456C>T at 11.66 percent each. India can sequence PKLR to publication standard. No Indian laboratory has yet reported doing it in a cat.

No Indian rule covers a cat breeder

India regulates genetic testing before breeding, and the rule applies to dogs. Clause 8(10) of the Prevention of Cruelty to Animals (Dog Breeding and Marketing) Rules, 2017, notified as G.S.R. 496(E) on 23 May 2017, states that the dogs shall have been tested for genetic defects, including hip dysplasia, progressive retinal atrophy, night blindness, hypothyroidism, entropion, ectropion, overshot, undershot jaw, wry mouth, two or more missing teeth, unilateral cryptorchid or full cryptorchid males. The word including makes that list illustrative rather than exhaustive, so a condition it does not name is unnamed rather than excluded. The word cats does not occur anywhere in the extracted text of those rules.

The rules that do cover cats say nothing about genetics. The Prevention of Cruelty to Animals (Pet Shop) Rules, 2018, notified as G.S.R. 844(E) on 6 September 2018, plainly apply to cats, with the word cat appearing 72 times and cats 9 times across the gazette text, and they carry a dedicated housing block for cats. The words genetic, hereditary and DNA test appear zero times in that same text, checked both in the flat extraction and in a whitespace-squashed copy of it to defeat the word-splitting that PDF extraction introduces. An Indian cat breeder is therefore under no legal obligation to test anything. Both notifications were issued from New Delhi, the dog rules on 23 May 2017 and the pet shop rules on 6 September 2018 Ministry of Environment. What the pet shop rules do regulate for a cat is the physical environment. A pet shop applies to the State Animal Welfare Board on Form-I for a certificate valid up to five years, must house animals at an ambient and comfortable temperature appropriate to the species and breed, and must give cats a solid-floored enclosure, elevated resting surfaces, matting and clean play toys under a schedule block headed FOR CATS. Temperature is regulated and genotype is not, which is a strange balance given that high temperature was one of the triggers owners of PK-deficient cats actually identified.

No Indian registry can make the test compulsory

The lever the United Kingdom pulled does not exist here, because India has no cat registry. The Kennel Club of India is the country's national pedigree body and it is a dog body: its own site offers a Registration of Litter form, a Single Dog Registration Form and an Application to Hold a Dog Show, the words cat, cats and feline occur nowhere in its page text, and it is administered from AA Block, First Street, Anna Nagar, Chennai 600 040. The Governing Council of the Cat Fancy can make PKDef testing compulsory for a Somali precisely because it is the body that issues the pedigree. Until an Indian cat registry exists, the only pressure on an Indian cattery is a buyer who asks for the certificate, and the KCI registration explained guide sets out what the dog registry does do.

No Indian laboratory sells the single test

The only Indian domain ranking on Google India for the India query is a human laboratory. DNA Labs India appeared in the top ten for pk deficiency test cat india on 27 September 2026, and its own home page describes it as a diagnostic and genetic laboratory working with referring physicians and more than 200 hospitals, with 1,118 tests in its largest category, all of them human. The EasyDNA CatCheck panel remains the one route that ships from inside India, and it sells the PKLR result only inside a 54-disease bundle EasyDNA India, CatCheck List of Items…. The company behind it prints its own registered address in the footer of that same product page, at Newtown in Kolkata, West Bengal, and prints the price as ₹17,999.

What an Indian buyer should actually do

Ask for the paperwork before the kitten, because that is the only leverage a buyer has. The dog breeder checks in India guide sets out the general version of this conversation, and for a cat the specific ask is short.

• Ask for both parents' PKLR certificates, by genotype letter. An N/N by N/N mating cannot produce an affected kitten, and no further testing of the kitten is needed if both parents are N/N.
• Ask which laboratory issued them and which position it reports. UC Davis, Langford Vets and Laboklin all publish the test; a certificate should name the laboratory, the cat and the result LABOKLIN (UK). Cats.
• Ask where the founding cats came from. A Bengal line founded on British or American imports carries a variant frequency near 0.17, while the Japanese Bengal population sits at 0.016 Kushida K, Giger U, Tsutsui T, Inaba M.
• Ask for the microchip number on the certificate if you want a result that a register will accept, because the sample must be taken by a vet who has read that chip.
• Budget 47 US dollars per cat and at least 15 business days if you have to test the cat yourself after buying it, or 17,999 rupees for the Indian panel that carries it EasyDNA India, CatCheck.

One Indian reality deserves naming because it cuts the other way. A haemolytic anaemia in an Indian cat is far more likely to be infectious than inherited, and the first molecular evidence of feline babesiosis in India, a novel species named Babesia panickeri, was published from a naturally infected three-month-old cat in Kerala in 2020. Rule out the parasite before you spend on the panel, at 150 rupees for a haemoprotozoa test.

What a breeder does with the result, and the evidence that testing works

A breeder uses a PKLR result to choose the mate, not to remove the cat. Affected and carrier cats can be bred safely to N/N cats, which produces no affected kittens and keeps the gene pool intact.

To breed safely from a cat that is not N/N, mate it to a cat that is. Langford Vets sets out the reasoning directly. It is permissible to breed affected cats with normal cats, which does not risk producing any affected kittens but will produce carriers, and those carriers can then be bred to other normal cats, producing more cats that are normal and do not carry the defective gene.

There is one asymmetry in that advice that a breeder should not miss. If an affected cat is to be used, it is preferable that it be a male, because an affected female could become ill during pregnancy with the risk of anaemia developing. The Berlin series records exactly that outcome in one cat, which had shown no clinical signs until it died after parturition.

Neutering every affected cat is the intuitive response and the registry laboratory argues against it. Genetic diseases are more likely to arise when the gene pool within a breed is small, so if a significant proportion of cats carry the defective gene, neutering would only reduce the number available for breeding and shrink the pool further, increasing the chance of other genetic diseases arising. There is no need to stop breeding, but testing before breeding is essential, and careful programmes are needed to eliminate the disorder gradually.

Where testing is already compulsory

One registry has already made the test mandatory for one breed. For Somali cats, testing for PKDef is compulsory if the cat is to be registered on the Governing Council of the Cat Fancy active register and used for breeding. That is the strongest existing lever anywhere in this disease, and India has no equivalent for any cat breed.

The evidence that screening changes a population

Screening does move the numbers, and two datasets show it in different diseases. Within Grahn's own survey, the Abyssinian and Bengal populations in the United States deviate significantly from Hardy-Weinberg expectation, and they deviate in the direction that selection predicts: observed carriers were up 7.9 percent and observed homozygous affected cats down 54.8 percent in Abyssinians, with carriers up 6.0 percent and affected down 30.6 percent in Bengals. In the biased sample of cats actually submitted for PK testing the effect is larger still, with affected Abyssinians down 57.6 percent and affected Bengals down 35.5 percent against expectation.

The authors read that exactly as a breeder would hope. Increases in the observed number of carriers in both breeds suggest that breeders are using genetic data to actively select against matings that would produce affected offspring, while lack of selection in the remaining populations has allowed the variant to persist and produces higher percentages of affected cats in those breeds.

A much larger Japanese dataset makes the same point on a different feline gene, and its limitation is worth stating. Across 61,968 genetically tested cats in 14 breeds, the carrier frequency of the PKD1 variant fell 42.6 percent between 2019, when full-scale testing of kittens began, and 2022, with significant reductions in Scottish Folds, Persians and Ragamuffins and no significant reduction in British Shorthairs, Minuets or Munchkins. That is polycystic kidney disease and a dominant gene rather than pyruvate kinase deficiency and a recessive one, so it is evidence about direct-to-consumer testing as a mechanism rather than about this disease.

The recessive case is slower by arithmetic and that is the thing to be realistic about. A dominant variant is exposed to selection in every carrier, because every carrier is affected; a recessive variant hides in healthy N/K cats and only shows itself when two of them meet. Removing affected cats alone barely moves a recessive allele frequency, which is why the whole strategy rests on testing the healthy-looking breeding cats rather than the sick ones Barrs VR, Giger U, Wilson B, Chan CT.

The cost of not doing that is measurable, and it is the single most quotable number in this literature. Of the 25 affected cats in the Berlin series, at least 16 had been used for breeding at least once before a diagnosis was established, spreading the mutant allele. Langford Vets puts the same fact in an owner's language, that because some cats never show clinical signs, affected cats may not be identified until they have had large numbers of offspring.