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Genetic Testing with UCDavis Labs




Hypertrophic Cardiomyopathy- HCM "is the most common cardiac disease in cats. Affected cats are at risk of sudden cardiac death due to defects that produce increased left ventricular heart muscle thickness. In Ragdolls, the condition is inherited due to breed specific mutations in the cardiac myosin binding protein C gene (MYBPC3.)" -


Polycystic Kidney Disease- PKD "is a well-documented abnormality in domestic cats. Cystic kidneys can sporadically occur in any population of cats. PKD is not a new disease and has been reported in the literature for over 30 years. The heritable form of PKD1 may not have initially occurred in Persians as a new mutation, but perhaps in random bred cats. Unfortunately, PKD1 does not have a strong clinical presentation. The presentation of PKD1 is similar to one of the most common causes of death for any cat, renal failure. Thus, PKD1 has gone unnoticed for many years and has spread throughout the Persian breed. Any breed that has used Persians in their foundation or propagation should have concerns for PKD1." -


Mucopolysaccharidosis VIsevere (MPSVIs) and mild (MPSVIm) "are lysosomal storage diseases resulting from two independent mutations in the gene for enzyme N-acetylgalactosamine 4-sulfatase (4S).  Both are inherited as autosomal recessives, thus males and females can be equally affected if they carry 2 copies of the defective gene. Cats with 2 copies of the severe form show signs at 6-8 weeks of age that include wide faces, shortened noses, small ears, reduced flexibility and retarded growth compared to unaffected littermates.  By 8 months of age, problems of severe hind-limb mobility or paralysis, and signs of degenerative joint disease can be observed. Clinically, urine samples show increased levels of dermatan sulfate (DS) and an increase in white blood cell granules.  Organs and tissues can also be compromised by accumulation of intercellular DS. Additional effects of the disease include corneal clouding and heart valve thickening. Cats with two copies of the mild form disease (MPSVIm) have less 4S enzyme and form granules in the white blood cells but otherwise appear healthy.  The same is true of cats with one copy of the mild form and one copy of the severe form. Cats with only one copy (carrier) of either mutation and one copy of the normal gene appear healthy.  Breeding two carriers together is predicted to produce 25% affected offspring and 50% carriers of the disease. Breeds at risk for MPSVIs and MPSVIm are Birman, Ragdoll, Siamese and related breeds, Domestic Shorthair." - 



This mutation can lead to “late onset” blindness. Cats homozygous for this mutation are born without evidence of clinical disease or detectable abnormalities in the eye during a clinical exam, the disease develops slowly over time. Lesions in the fundus can be observed by full-field flash electroretinography (ERG) as early as 8 months, and are visible via opthalmoscopic exam around 1.5-2 years. Loss of vision occurs slowly and typically the end stage of the disease is reached by 4-7 years of age.



The CRX mutation causes an “early-onset” disease with clinical signs evident by 4-5 weeks of age. Visual impairment is usually evident within the first 4 months of life. Inheritance of this disorder is autosomal dominant and the breeding of two carriers is likely to result in non-viable offspring.


Erythrocyte Pyruvate Kinase Deficiency(PYKD):

Erythrocyte Pyruvate Kinase Deficiency (PK Deficiency) is an inherited hemolytic anemia caused by insufficient activity of this regulatory enzyme which results in instability and loss of red blood cells. The anemia is intermittent, the age of onset is variable and clinical signs are also variable. Symptoms of this anemia can include: severe lethargy, weakness, weight loss, jaundice, and abdominal enlargement. This condition is inherited as an autosomal recessive.


Both PRA & PYKD can be reference on and (For PYKD) and (For PRA).


Feline leukemia virus(FeLV): FeLV adversely affects a cat's body in many ways. It is the most common cause of cancer in cats, may cause various blood disorders, and may lead to a state of immune deficiency that hinders a cat's ability to protect itself against other infections. Because of this, common bacteria, viruses, protozoa, and fungi that usually do not affect healthy cats can cause severe illness in FeLV-infected cats. These secondary infections are responsible for many of the diseases associated with FeLV. Reference on


Contagious (Not Genetically inherited):


Feline immunodeficiency virus(FIV): In infected cats, feline immunodeficiency virus (FIV) attacks the immune system, leaving the cat vulnerable to many other infections. Although cats infected with FIV may appear normal for years, they eventually suffer from this immune deficiency, which allows normally harmless bacteria, viruses, protozoa, and fungi found in the everyday environment to potentially cause severe illnesses. The median survival time for a cat diagnosed with FIV is approximately five years. Reference on


Both feline leukemia virus (FeLV) and feline immunodeficiency virus (FIV) are retroviruses. Unlike some forms of viruses that infect cells and then kill them, retroviruses actually alter the genetic material of the infected cell and turn cells into little virus factories.

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