Genetic Testing for Pedigreed Cats

January 13, 2026

Insights into Color, Health, and Report Interpretation

Jacqui Bennett – chair, CFA Preservation Breeder Program
with Michael Shelton and Lorraine Shelton

 

Genetic testing could reveal differences among this litter of Maine Coon Cat kittens.

Genetic testing for pedigreed cats has become an invaluable tool for preservation breeders, veterinarians, and the general population. It enables the identification of coat color alleles, patterns, and predispositions to hereditary health conditions that can affect different breeds. With advances in DNA sequencing and the growing availability of commercial test kits, cat owners and breeders can gain insights into their cat’s genetic makeup, allowing for improved breeding decisions, early disease intervention, and a deeper appreciation of each cat’s unique heritage.

Genetic tests for cats fall into two main categories:

– Color and pattern testing: Specific genetic markers linked to coat color, pattern, and physical traits, color and patterns present within the sample (including recessives which are not visible).

– Health and trait screening: Screens for known hereditary diseases, aiding in early detection and management.

This article explores what can be tested for – focusing on color alleles, coat patterns, and health issues – and delves into how to interpret genetic test reports from leading laboratories.

Major Commercial Cat DNA Testing Laboratories

In recent years, several laboratories have emerged offering DNA testing services tailored to cats. These range from breed identification specialists to comprehensive health screening providers. Below is a list of a few of these and the testing offered:

US BASED

  • Wisdom Panel (Optimal Selection & MyCatDNA) offers breed ancestry, health screens, traits, blood type, and breed population data. The database includes 70+ cat breeds, 45+ health markers, and 25+ traits. Wisdom Panel’s breed database is among the largest and offers professional consultation for result interpretation at no extra charge.
  • Orivet offers health markers, life plan recommendations, and optional breed-specific panels. The database includes 17+ health markers, 13+ traits, and breed panels available separately. Orivet’s focus is on breeders and veterinary professionals, providing a straightforward health screening without speculative breed ancestry results. It offers customizable breed-specific tests for diseases, such as the Burmese head defect or Maine Coon Cat cardiomyopathy.
  • UC Davis Veterinary Genetics Laboratory (VGL) offers parentage testing, coat color panels, and genetic disease tests. The UC Davis database has comprehensive panels for 19+ coat color genes, disease-specific tests, and is internationally recognized for its precision and veterinary focus. It offers single-gene tests (e.g., PKD1 for polycystic kidney disease) and multilocus panels such as the coat color + white gloves (Birman pattern) panel.
  • Animal Genetics offers trait and health screening panels with a database which includes 80+ health markers, comprehensive trait tests including coat type, and morphology. They provide flexible collection methods for breeders and ensure robust result interpretation via a veterinarian-supervised sample collection.

ASIA BASED

  • Pet Geno is a lab in China which offers feline genetic testing that covers a wide range of traits, similar to other comprehensive platforms like Wisdom Panel and Orivet. Specific genetic health conditions they cover include polycystic kidney disease (PKD), hypertrophic cardiomyopathy (HCM), progressive retinal atrophy (PRA), glycogen storage disease (GSD), and spinal muscular atrophy (SMA).
  • Prenetics/CircleDNA in Hong Kong specializes in Whole Exome Sequencing (WES); it is primarily human-focused, but may support custom animal testing.
  • Tellgen Corporation in Pudong specializes in molecular diagnostics, including PCR-based genetic testing.

EU BASED

  • Langford Vets in the UK Offers internationally-recognized cat genetic testing; reinvests in feline health research.
  • GenEra/VetGen.eu in Latvia provides extensive DNA panels for cats including health, phenotype, and breed-specific tests.
  • Animal Genetics Europe has multiple sites throughout the EU and offers testing for genetic disorders, coat traits, and parentage.

Beyond commercial labs, academic and veterinary institutions have contributed significantly to feline genetic research.

  • University of California, Davis (VGL) – Parentage, coat color, PKD1, PRA, and HCM tests. This lab is a pioneer in feline coat color genetics, offering breed and disease panels and forensic services.
  • University of Missouri is home to the Feline Genomics Project, developing whole-genome sequencing resources. They offer parentage verification, health, and trait research.
  • Cornell Feline Health Center has veterinary-focused wellness and disease management guidelines. They offer PKD, hypertension, amyloidosis, bladder/kidney stones, and standard blood tests.

Academic labs often lead novel discoveries such as the identification of PKD1 mutations in Persians, FGF5 hair-length gene variants in longhair cats, and DKK4 ticked tabby markers in Abyssinians.

Testable Color Alleles in Cats

Coat color in cats is determined by multiple genes, each with specific alleles that influence pigment type, distribution, and pattern. Below is a summary of the major coat color loci and their effects.

Locus (Gene) Alleles Phenotype Reference
B / TYRP1 B (black) > b (chocolate) > b<sup>l</sup> (cinnamon) Dominant black; chocolate recessive to black; cinnamon recessive to chocolate Veterinary Genetics Laboratory – Coat Color Panel
D / MLPH D (full density), d (dilute) Full pigment vs. dilute (blue, cream, fawn) Veterinary Genetics Laboratory – Coat Color Panel
O / ARHGAP36 O (Red) > o (non-Red) Red coat, sex-linked; tortoiseshell with Oo Schmidt-Küntzel et al. 2009; Arhgap36 mutation discovery
A / ASIP A (agouti) > a (non-agouti) Tabby undercoat vs. solid hide; “ghost tabby” in aa individuals CFA Genetics – Basic Feline Genetics
C / TYR C (full color), c<sup>s</sup> (point), c (albinism) Color point patterns (Siamese, Burmese) vs. full color vs. albino CFA Genetics; Lyons et al. 2005
S / KIT S (white spotting) > s (full color) Variable white spotting; epistatic white Veterinary Genetics Laboratory, FCA basic genetics panels
I / TBD I (inhibitor), i (non-inhibitor) Silver pigmentation: smoke/silver tabby, chinchilla, tipped Turner & Robinson 1980; WSAVA Silver Gene reviews
Mc / Taqpep M<sup>c</sup> (mackerel), Mc (blotched) Classic vs. mackerel tabby patterns Kapper et al. 2005; Eizirik et al. 2010

 

Coat patterns such as mackerel, blotched (classic), spotted, and ticked tabby are modulated by additional loci downstream of the Agouti (A) locus:

– Ticked (DKK4): TiA (ticked) dominant to Ti(non-ticked); epistatic over other tabby patterns. Mutations reduce DKK4 expression, removing stripes on the body, as seen in Abyssinians and Singapuras.

– Tabby (Taqpep): MC (mackerel) is dominant to Mc (classic) tabby. Mutations in Taqpep produce a distinct blotched pattern in many breeds.

– Spotted Modifier (Sp): Splits tabby patterns into spots; dominant to sp and acts only in the presence of an agouti allele. This is a variable expression which can be visible from fully spotted (as seen in the Egyptian Mau or Ocicat) to broken lines and classic pattern.

Health Markers in Genetic Testing

Genetic health screens identify mutations associated with hereditary diseases. A growing number of cat-specific tests are available for conditions such as:

Disease Gene/Marker
Polycystic Kidney Disease (PKD) PKD1
Hypertrophic Cardiomyopathy (HCM) MYBPC3
Progressive Retinal Atrophy (rdAc) CEP290
Progressive Retinal Atrophy (rdG) RHO
Factor XII Deficiency F12
Pyruvate Kinase Deficiency PKLR
Polycystic Kidney Disease Type II (PKD2) PKD2
Spinal Muscular Atrophy LIX1

 

Breed-Specific Health Risks

Certain breeds have the potential for elevated risks for specific conditions. Examples include (but are not limited to):

  • Persians: PKD and brachycephalic airway syndrome (BAS).
  • Maine Coon Cats: HCM and spinal muscular atrophy (SMA) mutations; kyphosis (spinal curvature) in some lines.
  • Siamese: Strabismus, asthma, lymphomas, and diabetes mellitus predisposition.
  • Burmese: Burmese head defect, glycosphingolipid storage disorders (GM2), and orofacial pain syndrome.

Structure of a Cat Genetics Test Report

Genetic test reports typically include:

  1. Sample Information: Collection date, sample type (swab, hair, blood), and processing timestamp.
  2. Health Marker Summary: A list of tested conditions with results – Clear, Carrier, At Risk, At High Risk.
  3. Trait Analysis: Physical traits (e.g., hair length, coat color, polydactyl status).
  4. Blood Type Prediction: Genetic likelihood of A, B, or AB blood type and transfusion risk.

“Breed Similarity” and “Top Breed Matches”

For those reports which include “Breed Similarity” or “Breed Ancestry,” it is important to remember that the database size of pedigreed cats for comparison purposes is statistically small; therefore these details are for entertainment purposes only and cannot be considered scientific evidence. All traits found in pedigreed cats exist in the non-pedigreed population, and less than 5% of all cats are purposely bred. In addition, many breeds are hybrid crosses of other breeds such as the Ocicat, Tonkinese, and Colorpoint Shorthair, or have been bred to have identical traits and structures as the Persian in the case of the Exotic.

 

Interpreting Carrier versus Affected Status

Genetic tests for recessive conditions report results as:

  • Clear: No copies of the mutated allele.
  • Carrier: One copy of a recessive allele (healthy but can pass it on).
  • Affected/At Risk: Two copies of the recessive allele (high likelihood of disease manifestation).
  • Carriers may breed safely with non-carriers to avoid affected offspring.
  • At-risk individuals should be excluded from breeding programs and closely monitored by a veterinarian.

 

Sample Collection and Processing Workflow

A typical workflow for at-home cat DNA testing:

  1. Sample Collection – Use a soft cotton or bristle cheek swab, holding in the cheek pouch for 15 seconds. Alternatively, collect 1–2 drops of blood on a PermaCode card or a hair sample for allergy panels.
  2. Sample Registration and Packaging – Record and register the kit ID online before shipping. Place the swab or card in the provided biohazard bag or paper envelope and drop in a prepaid envelope (US customers) or ship with provided instructions (international customers).
  3. Laboratory Processing – Once received, the lab will begin the DNA extraction, quantification, and amplification for Next-Generation Sequencing (NGS) or targeted genotyping (e.g., PCR) for specific markers.
  4. Bioinformatics Analysis – The test results will then be reviewed for sequence alignment, variant calling, and comparison against breed reference panels, as well as health marker analysis against proprietary disease-variant databases.

Test Accuracy and Database Coverage

As labs increase their sample size, the confidence in testing results will continue to grow. However, it is always important to remember that the results can be affected by a number of factors including:

Health Marker Accuracy: Highly accurate for single-gene disorders with well-characterized mutations (e.g., PKD1). Complexity increases for polygenic traits or conditions with multiple causative mutations.

Coverage Limitations: Not all breeds or variants are included, and interpretation must account for gaps.

Laboratory Report Update Policies and Versioning

It is important to remember that genetic testing and reporting is constantly updating and growing as laboratories periodically update databases, health marker lists, and trait panels as new discoveries emerge.

 

Reducing Genetic Disease Prevalence

Preservation Breeders integrate DNA testing into their programs to:

  • Identify carriers and avoid at-risk matings.
  • Preserve genetic diversity by avoiding overuse of “popular sires.”
  • Collaborate with veterinarians to interpret results and design healthier lines.

They share health screening results and educate others on potential breed predispositions.

In Conclusion

Genetic testing provides powerful insights into coat colors, patterns, physical traits, and hereditary diseases. By leveraging advanced technologies from leading laboratories like Wisdom Panel and the Veterinary Genetics Laboratory, breeders and owners can make informed decisions to ensure their cats’ health, preserve breed integrity, and promote responsible breeding practices.

Reading and interpreting test reports requires an understanding of:

  • Genetic marker nomenclature and inheritance patterns.
  • The scope and limitations of reference databases.
  • Carrier versus affected status for health risk assessments.

Continued advancements in feline genetics promise even greater accuracy and deeper insights, solidifying the cat DNA test as an essential tool in modern cat breeding and veterinary care.

 

References