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In domestic cats, the common blood groups are A and B; a third rare blood group, AB, is also known. This terminology is confusing because type AB is not the result of the presence of both blood groups A and B. A genetic mutation associated with blood group B in most cats has been identified. Genetic testing therefore makes it possible to determine whether a cat is bb (blood group B), Ab (carrier of the b allele with blood group A or AB), or AA (blood type A or AB). This test is particularly important in cats because of neonatal isoerythrolysis. Indeed, the colostrum of a mother with blood group B can kill a kitten if it belongs to blood group A or AB.

This test analyzes mutations specific to the Neva Masquerade breed and is not valid for other breeds.

Different mutations in the FGF5 gene produce long hair in cats. Progenus tests for mutation 4 which is present in many breeds.

The FOLD mutation induces the folded ear phenotype characteristic of the Scottish Fold breed. Cats with this mutation may also have cartilage and bone related health problems, including deformed limbs, thickened and stiffened tails and progressive osteoarthritis. The age of onset and progression of these side effects is highly variable. Cats with two copies of the FOLD mutation are more prone to these health problems than heterozygotes (carriers of only one copy).

The albino mutation is a rare mutation that produces a white coat and blue eyes, and is recessive to the colorpoint mutations (see CAT-COLOPOINT test).

The colorpoint mutation is associated with the production of temperature sensitive pigments. Pigment production is reduced in the warmer areas of the body, resulting in darker pigmentation in the cooler extremities of the cat (paws, ears, etc.). In the Siamese phenotype, pigment expression is limited to the extremities of the cat (legs, tail, ears, face). In the Burmese phenotype, the pigment expression results in a wider distribution of pigments on the body and darker spots than the body.

Each cat has its own DNA signature. It is a sort of genetic identity card, which includes the 15 microsatellites recommended by the ISAG (International Society for Animal Genetics).

Progressive retinal atrophy causes blindness due to the destruction of the rods. The loss of vision begins at 7 weeks of age and gradually declines until it is almost complete by the age of 2 years.

This test is also recommended for the breeds Australian Mist (see the official program), Javanese (see the official program), Scottish Straight (see the official program), Thaï (see the official program), Tibetan (see the official program) as part of the Flemish government breeding program.

The charcoal coat pattern, unique to Bengal cats, features a dark facial mask and a distinctive dorsal stripe, often called a "cape." Unlike fully melanistic cats, the charcoal pattern results from a complex interaction between genes influencing melanism and coat patterning.

This pattern is strongly associated with compound heterozygosity in the ASIP gene. Specifically, it arises when a Bengal inherits one copy of the A^Pbe and one copy of the non-agouti allele (a) which in combination creates the striking charcoal phenotype.

The ticked coat pattern is caused by the two dominant variants Ti^A and Ti^CK. The distinctive feature is characterized by a coat made almost entirely of agouti hairs, creating a speckled or "ticked" appearance. Unlike other tabby patterns, cats with one of two of these dominant alleles lack dark stripes, blotches, or spots on their body. However, faint striping may still be visible on the legs and tail. This pattern is only expressed if cat is A/A or A/a for agouti.

Hypotrichosis, also known as nudity syndrome, is a hereditary disease seen in Burmese Sacred cats. Affected kittens are born hairless with oily skin. This mutation also causes an altered immune system resulting in premature death of affected kittens.