Acute Intermittent Porphyria (Variant 1)

Acute Intermittent Porphyria (AIP) is caused by faulty enzyme activity and results in brownish discoloration of the teeth and urine in affected cats.

Acute Intermittent Porphyria (Variant 2)

Acute Intermittent Porphyria (AIP) is caused by faulty enzyme activity and results in brownish discoloration of the teeth and urine in affected cats.

Acute Intermittent Porphyria (Variant 3)

Acute Intermittent Porphyria (AIP) is caused by faulty enzyme activity and results in brownish discoloration of the teeth and urine in affected cats.

Acute Intermittent Porphyria (Variant 4)

Acute Intermittent Porphyria (AIP) is caused by faulty enzyme activity and results in brownish discoloration of the teeth and urine in affected cats.

Acute Intermittent Porphyria (Variant 5)

Acute Intermittent Porphyria (AIP) is caused by faulty enzyme activity and results in brownish discoloration of the teeth and urine in affected cats.

Autoimmune Lymphoproliferative Syndrome (Discovered in British Shorthair)

Autoimmune Lymphoproliferative Syndrome is a disease of the immune system which can cause the lymph nodes to become severely enlarged.

Burmese Head Defect (Discovered in the Burmese)

Burmese Head Defect causes severe facial defects when two copies of the variant are present, and affected cats require humane euthanasia shortly after birth.

Chediak-Higashi Syndrome (Discovered in the Persian)

Chediak-Higashi Syndrome (CHS) is a metabolic disorder that causes partial albinism, prolonged bleeding, sensitivity to light and cataracts to develop at a young age.

Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia is an endocrine disorder which leads to aggression, abnormalities of the genitalia, and excessive drinking and urination.

Congenital Erythropoietic Porphyria

Congenital Erythropoietic Porphyria (CEP) is caused by faulty enzyme activity and results in brownish discoloration of the teeth and urine in affected cats.

Congenital Myasthenic Syndrome (Discovered in the Devon Rex and Sphynx)

Congenital Myasthenic Syndrome (CMS) is a condition that causes muscle weakness and fatigue.

Cystinuria Type 1A

Cystinuria is a condition that predisposes cats to form cystine crystals and stones within the urinary tract, which can then cause irritation and blockage.

Cystinuria Type B (Variant 1)

Cystinuria is a condition that predisposes cats to form cystine crystals and stones within the urinary tract, which can then cause irritation and blockage.

Cystinuria Type B (Variant 2)

Cystinuria is a condition that predisposes cats to form cystine crystals and stones within the urinary tract, which can then cause irritation and blockage.

Cystinuria Type B (Variant 3)

Cystinuria is a condition that predisposes cats to form cystine crystals and stones within the urinary tract, which can then cause irritation and blockage.

Dihydropyrimidinase Deficiency

Dihydropyrimidinase Deficiency is a condition that causes tiredness, weakness, vomiting, and high levels of ammonia in the blood.

Earfold and Osteochondrodysplasia (Discovered in the Scottish Fold)

The Earfold and Osteochondrodysplasia variant results in the breed defining folded ears of Scottish Fold cats and is associated with skeletal malformations and arthritis.

Factor XII Deficiency (Variant 1)

Factor XII Deficiency, also known as Hageman trait, is an asymptomatic blood factor deficiency. While it does not cause an abnormal tendency to bleed, it can be observed as prolonged blood clotting times during certain laboratory screening tests.

Factor XII Deficiency (Variant 2)

Factor XII Deficiency, also known as Hageman trait, is an asymptomatic blood factor deficiency. While it does not cause an abnormal tendency to bleed, it can be observed as prolonged blood clotting times during certain laboratory screening tests.

Familial Episodic Hypokalemic Polymyopathy (Discovered in the Burmese)

Familial Episodic Hypokalemic Polymyopathy causes episodes of muscle weakness and pain.

GM1 Gangliosidosis

GM1 Gangliosidosis causes muscle tremors, uncoordinated movements, and blindness.

GM2 Gangliosidosis

GM2 Gangliosidosis causes muscle tremors, uncoordinated movements, difficulty eating, and blindness.

GM2 Gangliosidosis Type II (Discovered in Domestic Shorthair cats)

GM2 Gangliosidosis Type II causes muscle tremors, uncoordinated movements, difficulty eating, and blindness.

GM2 Gangliosidosis Type II (Discovered in Japanese domestic cats)

GM2 Gangliosidosis Type II causes muscle tremors, uncoordinated movements, difficulty eating, and blindness.

GM2 Gangliosidosis Type II (Discovered in the Burmese)

GM2 Gangliosidosis Type II causes muscle tremors, uncoordinated movements, difficulty eating, and blindness.

Glutaric Aciduria Type II

Glutaric Aciduria Type II causes loss of appetite, vomiting and seizures in young cats.

Glycogen Storage Disease (Discovered in the Norwegian Forest Cat)

Glycogen Storage Disease results in low blood sugar levels leaving kittens and young cats weak. The condition leads to muscle wasting, seizures and cardiac failure.

Hemophilia B (Variant 1)

Hemophilia B, or Factor IX Deficiency, is a blood clotting disorder that can result in tiredness, decreased appetite, fever, lameness, and prolonged bleeding times after injury, trauma or surgery.

Hemophilia B (Variant 2)

Hemophilia B, or Factor IX Deficiency, is a blood clotting disorder that can result in tiredness, decreased appetite, fever, lameness, and prolonged bleeding times after injury, trauma or surgery.

Hyperoxaluria Type II

Hyperoxaluria Type II is a kidney disorder leading to severe weakness and kidney failure in young cats.

Hypertrophic Cardiomyopathy (Discovered in the Ragdoll)

Hypertrophic Cardiomyopathy (Discovered in the Ragdoll) is a disorder where the heart muscle wall increases in thickness, eventually leading to heart failure.

Hypotrichosis (Discovered in the Birman)

Hypotrichosis is a disorder of the immune system causing kittens to be born hairless and to develop serious infections.

Lipoprotein Lipase Deficiency

Lipoprotein Lipase Deficiency is a metabolic disorder that causes decreased body mass and reduced growth rates in affected kittens and can cause stillbirths in affected queens.

MDR1 Medication Sensitivity

MDR1 Medication Sensitivity is a disorder caused by a defect to a drug pumping protein that plays an important role in limiting drug absorption and distribution (particularly to the brain). Cats with the MDR1 variant may have severe adverse reactions to some commonly used medications.

Mucopolysaccharidosis Type I

Mucopolysaccharidosis Type I is a disorder causing failure to thrive, facial and other skeletal abnormalities, tremors, and clouding of the eyes.

Mucopolysaccharidosis Type VI

Mucopolysaccharidosis Type VI is a rare disorder causing dwarfism, degenerative joint disease, and clouding of the eyes.

Mucopolysaccharidosis Type VI Modifier

Mucopolysaccharidosis Type VI Modifier causes a mild degenerative joint disease, but only if one copy of Mucopolysaccharidosis Type VI is also present.

Mucopolysaccharidosis Type VII (Variant 1)

Mucopolysaccharidosis Type VII is a disorder causing weakness, growth retardation, facial and other skeletal abnormalities, and clouding of the eyes.

Mucopolysaccharidosis Type VII (Variant 2)

Mucopolysaccharidosis Type VII is a disorder causing weakness, growth retardation, facial and other skeletal abnormalities, and clouding of the eyes.

Myotonia Congenita

Myotonia Congenita is a condition that results in stiff movement and delayed relaxation of muscles after exercise.

Polycystic Kidney Disease (PKD)

Polycystic Kidney Disease (PKD) is the most common inherited disease in cats. The disease causes the formation of fluid-filled cysts in the kidneys that can lead to kidney failure.

Progressive Retinal Atrophy (Discovered in the Abyssinian)

Progressive Retinal Atrophy (Discovered in the Abyssinian) is a disorder that causes degeneration of the light sensing retina at the back of the eye, resulting in vision loss.

Progressive Retinal Atrophy (Discovered in the Bengal)

Progressive Retinal Atrophy (Discovered in the Bengal) is a disorder that causes degeneration of the light sensing retina at the back of the eye, resulting in vision loss.

Progressive Retinal Atrophy (Discovered in the Persian)

Progressive Retinal Atrophy (Discovered in the Persian) is a disorder that causes degeneration of the light sensing retina at the back of the eye, resulting in vision loss.

Pyruvate Kinase Deficiency

Pyruvate Kinase (PK) Deficiency is a disorder that causes anemia due to the breakdown of red blood cells.

Sphingomyelinosis (Variant 1)

Sphingomyelinosis causes progressive incoordination and tremors, enlargement of the spleen and liver, and changes in the lungs.

Sphingomyelinosis (Variant 2)

Sphingomyelinosis causes progressive incoordination and tremors, enlargement of the spleen and liver, and changes in the lungs.

Spinal Muscular Atrophy (Discovered in the Maine Coon)

Spinal Muscular Atrophy results in muscle wasting and progressive weakness. This test detects the presence or absence of the variant for Spinal Muscular Atrophy (Discovered in the Maine Coon) and cannot distinguish between cats that have one copy or two copies of the variant.

Vitamin D-Dependent Rickets

Vitamin D-Dependent Rickets results in skeletal abnormalities caused by low blood calcium levels.