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Learn about the genetic diseases that can affect your cat

petgenoma helps you discover predispositions before they become problems. Take the genetic test and take care of your pet's health ahead of time. More prevention, more care, more years together.

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Dermatological

Acrodermatitis enteropathica

Technical data

Gene: SLC39A4

Chromosome: F2

Variant: g.83034002C>G

Breeds

Turkish Van

Hair shaft dysplasia (variant 1)

Technical data

Gene: DSG4

Chromosome: D3

Variant: g.53103168del

Hair shaft dysplasia (variant 2)

Technical data

Gene: DSG4

Chromosome: D3

Variant: g.53124305del

Sebaceous gland dysplasia

Technical data

Gene: SOAT1

Chromosome: F1

Variant: g.20914140G>A

Hypohidrotic ectodermal dysplasia

Technical data

Gene: EDA

Chromosome: X

Variant: g.57148944G>A

Junctional epidermolysis bullosa (variant 1)

Technical data

Gene: COL17A1

Chromosome: D2

Variant: g.62124169del

Breeds

American Shorthair

Junctional epidermolysis bullosa (variant 2)

Technical data

Gene: COL17A1

Chromosome: D2

Variant: g.62149308C>T

Ehlers-Danlos syndrome (var. 1)

Technical data

Gene: ADAMTS2

Chromosome: A1

Variant: g.90995621dup

Ehlers-Danlos syndrome (var. 3)

Technical data

Gene: COL5A1

Chromosome: D4

Variant: g.93614145T>A

Breeds

Bombay

Ehlers-Danlos syndrome (var. 5)

Technical data

Gene: COL5A1

Chromosome: D4

Variant: g.93614145T>A

Breeds

Bombay

Ehlers-Danlos syndrome (var.2)

Technical data

Gene: COL5A1

Chromosome: D4

Variant: g.93694436T>G

Ehlers-Danlos syndrome (var.4)

Technical data

Gene: COL5A1

Chromosome: D4

Variant: g.93615144del

Ophthalmic

Leber congenital amaurosis

Technical data

Gene: AIPL1

Chromosome: E1

Variant: g.940554C>T

Breeds

Exotic, Himalayas, Persian, Persian/Exotic, Persian/Exotic/Himalayan

Progressive retinal atrophy (PRA) (variant 2)

Technical data

Gene: KIF3B

Chromosome: A3

Variant: g.26520830C>T

Clinical signs

Blindness, photophobia

Type II retinal degeneration / progressive retinal atrophy

Technical data

Gene: CEP290

Chromosome: B4

Variant: g.110285757A>C

Breeds

Abyssinian, American Curl, American Shorthair, American Wirehair, Bengal, Devon Rex, Havana Brown, Maine Coon, Manx, Munchkin, Ocicat, Eastern, Peterbald, Ragdoll, Scottish Fold/Straight, Siamese, Singapore, Somali, Sphynx, Tennessee Rex

Glaucoma 3, primary congenital

Technical data

Gene: LTBP2

Chromosome: B3

Variant: g.119460393_119460396dup

Breeds

Siamese

Retinopathy

Technical data

Gene: RDH5

Chromosome: B4

Variant: g.82298824G>T

Neurological and neuromuscular

Spinal muscular atrophy (SMA)

Technical data

Gene: LIX1

Chromosome: A1

Variant: g.159254616_159394886del

Breeds

Maine Coon

Cerebral dysgenesis

Technical data

Gene: PEA15

Chromosome: F1

Variant: g.64395109del

Encephalopathy

Technical data

Gene: ASPA

Chromosome: E1

Variant: g.13594036C>G

Gangliosidosis, GM1

Technical data

Gene: GLB1

Chromosome: C2

Variant: g.156332550C>G

Breeds

Korat, Siamese

Gangliosidosis, GM2

Technical data

Gene: GM2A

Chromosome: A1

Variant: g.195482837_195482840del

Gangliosidosis, GM2, type II (variant 3)

Technical data

Gene: HEXB

Chromosome: A1

Variant: g.139055474_139055498inv

Clinical signs

ataxia, tremors

Gangliosidosis, GM2, type II (variant 1)

Technical data

Gene: HEXB

Chromosome: A1

Variant: g.139024540del

Clinical signs

ataxia, tremors

Breeds

Korat

Gangliosidosis, GM2, type II (variant 2)

Technical data

Gene: HEXB

Chromosome: A1

Variant: g.139054716_139054730del

Clinical signs

ataxia, tremors

Breeds

Burmese

Gangliosidosis, GM2, type II (variant 4)

Technical data

Gene: HEXB

Chromosome: A1

Variant: g.139048794C>T

Clinical signs

ataxia, tremors

Neuronal ceroid lipofuscinosis type 6

Technical data

Gene: CLN6

Chromosome: B3

Variant: g.37187417G>A

Neuronal ceroid lipofuscinosis type 7

Technical data

Gene: MFSD8

Chromosome: B1

Variant: g.96630789del

Myotonia (variant 1)

Technical data

Gene: CLCN1

Chromosome: A2

Variant: g.157186686_157186693del

Myotonia (variant 2)

Technical data

Gene: CLCN1

Chromosome: A2

Variant: g.157195914G>C

Myotonia (variant 3)

Technical data

Gene: CLCN1

Chromosome: A2

Variant: g.157205990G>T

Metabolic

Beta mannosidosis

Technical data

Gene: MANBA

Chromosome: B1

Variant: g.119398498G>A

Dihydropyrimidinase deficiency

Technical data

Gene: DPYS

Chromosome: F2

Variant: g.49914423C>T

Multiple acyl-CoA dehydrogenase deficiency

Technical data

Gene: ETFDH

Chromosome: B1

Variant: g.69030128A>C

Glycogen storage disease type II

Technical data

Gene: GAA

Chromosome: E1

Variant: g.59338041G>A

Glycogen storage disease IV

Technical data

Gene: GBE1

Chromosome: C2

Variant: g.34574435_34612034delinsN[334]

Breeds

Norwegian Forest Cat

Niemann-Pick disease, type A

Technical data

Gene: SMPD1

Chromosome: D1

Variant: g.63262260G>A

Breeds

Siamese

Niemann-Pick disease, type C1 (variant 1)

Technical data

Gene: NPC1

Chromosome: D3

Variant: g.46059888C>G

Niemann-Pick disease, type C1 (variant 2)

Technical data

Gene: NPC1

Chromosome: D3

Variant: g.46075921T>G

Niemann-Pick disease, type C2 (variant 1)

Technical data

Gene: NPC2

Chromosome: B3

Variant: g.121865210C>T

Breeds

Siamese

Niemann-Pick disease, type C2 (variant 2)

Technical data

Gene: NPC2

Chromosome: B3

Variant: g.119395559C>T

Hyperlipoproteinemia

Technical data

Gene: LPL

Chromosome: B1

Variant: c.1315G>A

Multiple drug intolerance

Technical data

Gene: ABCB1

Chromosome: A2

Variant: g.93144355_93144356del

Clinical signs

xxxx

Breeds

Turkish Angora, Maine Coon, Ragdoll, Siamese

Mucolipidosis II

Technical data

Gene: GNPTAB

Chromosome: B4

Variant: g.122140618G>A

Mucopolysaccharidosis I (MPSI)

Technical data

Gene: IDUA

Chromosome: B1

Variant: g.204935473_204935475del

Mucopolysaccharidosis Type VI (MPSVI) (variant 1)

Technical data

Gene: ARSB

Chromosome: A1

Variant: g.142610129C>T

Breeds

Siamese

Mucopolysaccharidosis Type VI (MPSVI) (variant 2)

Technical data

Gene: ARSB

Chromosome: A1

Variant: g.142610260A>G

Breeds

Siamese

Mucopolysaccharidosis type VII (MPSVII) (variant 1)

Technical data

Gene: GUSB

Chromosome: E3

Variant: g.16005726T>G

Mucopolysaccharidosis type VII (MPSVII) (variant 2)

Technical data

Gene: GUSB

Chromosome: E3

Variant: g.16005729C>T

Vitamin D deficiency rickets, type IA (variant 1)

Technical data

Gene: CYP27B1

Chromosome: B4

Variant: g.84034173del

Clinical signs

Rickets, growth deficit, seizures, low bone mineralization on X-ray.

Vitamin D deficiency rickets, type IA (variant 2)

Technical data

Gene: CYP27B1

Chromosome: B4

Variant: g.84034267C>A

Breeds

Siamese

Rickets due to vitamin D deficiency, type IB

Technical data

Gene: CYP2R1

Chromosome: D1

Variant: g.71033344del

Rickets due to vitamin D deficiency, type II

Technical data

Gene: VDR

Chromosome: B4

Variant: g.74684169del

Cardiovascular

Hypertrophic Cardiomyopathy - HCM (variant 1)

Technical data

Gene: MYBPC3

Chromosome: D1

Variant: g.99280283C>G

Clinical signs

Respiratory distress, dyspnea, lethargy, exercise intolerance, heart murmurs, arrhythmia

Breeds

Maine Coon, Munchkin, Ragdoll, Scottish Fold/Straight, Siberian

Hypertrophic Cardiomyopathy - HCM (variant 2)

Technical data

Gene: MYBPC3

Chromosome: D1

Variant: g.99269394C>T

Clinical signs

Respiratory distress, dyspnea, lethargy, exercise intolerance, heart murmurs, arrhythmia

Breeds

American Shorthair, Munchkin, Ragdoll

Hypertrophic cardiomyopathy - HCM (variant 3)

Technical data

Gene: TNNT2

Chromosome: F1

Variant: g.42204052C>T

Clinical signs

Respiratory distress, dyspnea, lethargy, exercise intolerance, heart murmurs, arrhythmia

Breeds

British Shorthair, British Shorthair / Longhair, Devon Rex, Maine Coon, Ragdoll, Sphynx

Hypertrophic Cardiomyopathy - HCM (variant 4)

Technical data

Gene: ALMS1

Chromosome: A3

Variant: g.89899157G>C

Clinical signs

Respiratory distress, dyspnea, lethargy, exercise intolerance, heart murmurs, arrhythmia

Breeds

American Shorthair, British Shorthair, British Shorthair / Longhair, Devon Rex, Exotic, Himalayas, Maine Coon, Persian, Persian/Exotic, Persian/Exotic/Himalayan, Persian/Exotic/Himalayan, Scottish Fold/Straight, Sphynx

Hypertrophic cardiomyopathy - HCM (variant 5)

Technical data

Gene: MYH7

Chromosome: B3

Variant: g.73871470C>T

Clinical signs

Respiratory distress, dyspnea, lethargy, exercise intolerance, heart murmurs, arrhythmia

Renal/Urinary

Cystinuria Type 1A

Technical data

Gene: SCL3A1

Chromosome: A3

Variant: g.64071673C>T

Cystinuria Type B (Variant 1)

Technical data

Gene: SCL7A9

Chromosome: E2

Variant: g.20069793T>A

Breeds

Maine Coon, Siamese, Siberian, Sphynx

Cystinuria Type B (Variant 2)

Technical data

Gene: SCL7A9

Chromosome: E2

Variant: g.20218196G>A

Cystinuria Type B (Variant 3)

Technical data

Gene: SCL7A9

Chromosome: E2

Variant: g.20078992C>T

Polycystic Kidney Disease (PKD1 - variant 1)

Technical data

Gene: PKD1

Chromosome: E3

Variant: g.39431089C>A

Clinical signs

Polyuria, polydipsia, loss of appetite, anorexia, vomiting, lethargy

Breeds

American Shorthair, Exotic, Himalayas, Maine Coon, Munchkin, Persian, Persian/Exotic, Persian/Exotic/Himalayan, Ragdoll, Russian Blue, Scottish Fold/Straight, Siberian, Sphynx

Polycystic kidney disease (PKD1 - variant 2)

Technical data

Gene: PKD1

Chromosome: E3

Variant: g.39421688del

Clinical signs

Polyuria, polydipsia, loss of appetite, anorexia, vomiting, lethargy

Breeds

American Shorthair

Polycystic kidney disease (PKD1 - variant 3)

Technical data

Gene: PKD1

Chromosome: E3

Variant: g.39423246C>T

Clinical signs

Polyuria, polydipsia, loss of appetite, anorexia, vomiting, lethargy

Polycystic kidney disease (PKD2)

Technical data

Gene: PKD2

Chromosome: B1

Variant: g.132521077del

Clinical signs

Polyuria, polydipsia, loss of appetite, anorexia, vomiting, lethargy

Breeds

Siberian

Primary hyperoxaluria type II

Technical data

Gene: GRHPR

Chromosome: D4

Variant: g.58931559G>A

Clinical signs

Azotemia, anorexia, dehydration, urolithiasis

Breeds

Exotic, Himalayas, Persian, Persian/Exotic, Persian/Exotic/Himalayan

Hematological

Leukocyte adhesion deficiency, type I

Technical data

Gene: ITGB2

Chromosome: C2

Variant: g.1764454_1764477del

Erythrocyte pyruvate kinase deficiency - PKdef

Technical data

Gene: PKLR

Chromosome: F1

Variant: g.67876039G>A

Clinical signs

hyperbilirubinemia, mild to moderate reticulocytosis, lethargy, loss of appetite, weight loss, pale mucous membranes

Breeds

Abyssinian, Bengal, Egyptian Mau, La Perm, Lykoi, Maine Coon, Munchkin, Norwegian Forest Cat, Russian Blue, Siberian, Singapore

Factor XII deficiency (variant 1)

Technical data

Gene: F12

Chromosome: A1

Variant: g.172794693del

Clinical signs

prolonged thromboplastin time

Breeds

American Shorthair, Bengal, Maine Coon, Manx, Munchkin, Ragdoll, Siamese

Factor XII deficiency (variant 2)

Technical data

Gene: F12

Chromosome: A1

Variant: g.172795644G>C

Breeds

Turkish Angora, Bengal, Bombay, British Shorthair, British Shorthair / Longhair, Devon Rex, Exotic, Himalayas, Lykoi, Maine Coon, Munchkin, Eastern, Persian, Persian/Exotic, Persian/Exotic/Himalayan, Peterbald, Ragdoll, Scottish Fold/Straight, Selkirk Rex, Siamese, Siberian, Sphynx

Hemophilia B / Factor IX deficiency (variant 1)

Technical data

Gene: F9

Chromosome: X

Variant: g.114354785G>A

Hemophilia B / Factor IX deficiency (variant 2)

Technical data

Gene: F9

Chromosome: X

Variant: g.114374368C>T

Hemophilia C / Factor XI deficiency

Technical data

Gene: F11

Chromosome: B1

Variant: g.17127925G>A

Clinical signs

Petechiae, hematomas, epistaxis, hematuria, hemorrhage.

Breeds

Maine Coon

Methemoglobinemia (variant 2)

Technical data

Gene: CYB5R3

Chromosome: B4

Variant: g.135602485C>T

Methemoglobinemia (variant 3)

Technical data

Gene: CYB5R3

Chromosome: B4

Variant: g.135605793C>G

Acute intermittent porphyria (variant 1)

Technical data

Gene: HMBS

Chromosome: D1

Variant: g.16579672_16579675del

Acute intermittent porphyria (variant 3)

Technical data

Gene: HMBS

Chromosome: D1

Variant: g.16580358G>A

Acute intermittent porphyria (variant 4)

Technical data

Gene: HMBS

Chromosome: D1

Variant: g.16581286C>T

Acute intermittent porphyria (variant 5)

Technical data

Gene: HMBS

Chromosome: D1

Variant: g.16583320G>A

Acute intermittent porphyria (variant 6)

Technical data

Gene: HMBS

Chromosome: D1

Variant: g.16583337_16583339del

Congenital erythropoietic porphyria (variant 1)

Technical data

Gene: UROS

Chromosome: D2

Variant: g.81231649C>T

Congenital erythropoietic porphyria (variant 2)

Technical data

Gene: UROS

Chromosome: D2

Variant: g.81246195G>A

Development

Frontonasal Dysplasia

Technical data

Gene: ALX1

Chromosome: B4

Variant: g.107855022_107855033del

Breeds

Burmese

Chediak-Higashi Syndrome

Technical data

Gene: LYST

Chromosome: D2

Variant: g.13064245_13083649dup

Breeds

Exotic, Himalayas, Persian, Persian/Exotic, Persian/Exotic/Himalayan

Musculoskeletal

Becker muscular dystrophy (variant 1)

Technical data

Gene: DMD

Chromosome: X

Variant: g.27988938G>A

Breeds

Maine Coon

Becker muscular dystrophy (variant 2)

Technical data

Gene: DMD

Chromosome: X

Variant: g.27110574C>T

Becker muscular dystrophy (variant 3)

Technical data

Gene: DMD

Chromosome: X

Variant: g.27099390G>A

Limb-girdle muscular dystrophy

Technical data

Gene: COLQ

Chromosome: C2

Variant: g.132511706C>T

Breeds

Devon Rex, Sphynx

Duchenne muscular dystrophy (variant 1)

Technical data

Gene: DMD

Chromosome: X

Variant: g.28208148G>A

Breeds

Maine Coon

Duchenne muscular dystrophy (variant 2)

Technical data

Gene: DMD

Chromosome: X

Variant: g.27949145C>T

Fibrodysplasia ossificans

Technical data

Gene: ACVR1

Chromosome: C1

Variant: g.150014354C>T

Pycnodysostosis

Technical data

Gene: CTSK

Chromosome: C1

Variant: g.105446558G>A

Endocrine

Congenital adrenal hyperplasia

Technical data

Gene: CYP11B1

Chromosome: F2

Variant: g.81965422G>A

Clinical signs

Malformation of sexual organs, pseudohermaphroditism, hypertension, polyuria, polydipsia, aggressiveness

Hypogonadotropic hypogonadism

Technical data

Gene: TAC3

Chromosome: B4

Variant: g.83380534C>T

Congenital hypothyroidism

Technical data

Gene: TPO

Chromosome: A3

Variant: g.139592392C>T

Clinical signs

Disproportionate dwarfism, hypothermia, anorexia, obesity, constipation, lethargy, delayed closure of bone growth plates.

Neurological and musculoskeletal

Hypokalemic periodic paralysis

Technical data

Gene: WNK4

Chromosome: E1

Variant: g.41327499C>T

Breeds

Burmese

Sensory

Auditory-pigmentary syndrome/dominant blue eye - DBE (variant 2)

Technical data

Gene: PAX3

Chromosome: C1

Variant: g.205833101_205833102ins

Clinical signs

Hearing impairment

Breeds

Maine Coon, Siberian

Auditory-pigmentary syndrome/dominant blue eye - DBE (variant 3)

Technical data

Gene: PAX3

Chromosome: C1

Variant: g.205834854_205834855ins

Clinical signs

Hearing impairment

Breeds

British Shorthair, British Shorthair / Longhair

Auditory-pigmentary syndrome/dominant blue eye - DBE (variant 4)

Technical data

Gene: PAX3

Chromosome: C1

Variant: g.207001835del

Breeds

Maine Coon

Immunological

Autoimmune lymphoproliferative syndrome

Technical data

Gene: FASLG

Chromosome: F1

Variant: g.14766775dup

Breeds

British Shorthair, British Shorthair / Longhair

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