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Learn about the genetic diseases that can affect your dog

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.

Example of 1 of the 300 diseases detected by the petgenoma test:

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Neurological and neuromuscular

Cerebellar abiotrophy

Technical data

Gene: MUTYH/VMP1

Chromosome: 18

Variant: g.50666019delTCAAGGCA

Cerebellar ataxia

Technical data

Gene: SEPP1

Chromosome: 4

Variant: g.66946539_66963863del

Breeds

Belgian Shepherd

Cerebellar ataxia with spongy degeneration (SDCA1)

Technical data

Gene: KCNJ10

Chromosome: 38

Variant: g.22140659T>C

Clinical signs

ataxia, incoordination, seizures, walking in circles.

Breeds

Belgian Shepherd

Progressive Cerebellar Ataxia of Early Onset

Technical data

Gene: SEL1L

Chromosome: 8

Variant: g.53778458A>G

Spinocerebellar ataxia (variant 1)

Technical data

Gene: KCNJ10

Chromosome: 38

Variant: g.22140300C>G

Clinical signs

ataxia, incoordination, seizures, myoclonus.

Breeds

Fox Terrier, Jack Russell Terrier

Spinocerebellar ataxia (variant 2)

Technical data

Gene: CAPN1

Chromosome: 18

Variant: g.52009339C>T

Breeds

Jack Russell Terrier, Parson Russell Terrier

Spinocerebellar ataxia (variant 3)

Technical data

Gene: SPTBN2

Chromosome: 18

Variant: g.50666027_50666034del

Breeds

Beagle

Hereditary Ataxia

Technical data

Gene: RAB24

Chromosome: 4

Variant: g.36055678A>C

Breeds

Gordon Setter, Old English Sheepdog

Hereditary Ataxia (var. 2)

Technical data

Gene: KCNIP4

Chromosome: 3

Variant: g.88890674T>C

Beta mannosidosis

Technical data

Gene: MANBA

Chromosome: 32

Variant: g.24147500A>T

Clinical signs

ataxia, incoordination, seizures, deafness, proprioceptive deficit,

Breeds

German Shepherd (American), German Shepherd (European), Shepherd of Mantiqueira

Exercise-Induced Collapse (EIC)

Technical data

Gene: DNM1

Chromosome: 9

Variant: g.55282762C>A

Clinical signs

Ataxia, paresis, disorientation, hypertonia, collapse.

Breeds

Labrador, Vizsla, Welsh Corgi Pembroke

Cuccinin Semialdehyde Dehydrogenase Deficiency

Technical data

Gene: ALDH5A1

Chromosome: 35

Variant: g.22572768G>A

Breeds

Saluki

Cerebellar degeneration/inflammatory myopathy

Technical data

Gene: SLC25A12

Chromosome: 36

Variant: g.16219219A>G

Cerebellar cortical degeneration

Technical data

Gene: SNX14

Chromosome: 12

Variant: g.45530566C>T

Sponge Degeneration with Cerebellar Ataxia

Technical data

Gene: KCNJ10

Chromosome: 38

Variant: g.22140659T>C

Breeds

Parson Russell Terrier, Belgian Shepherd

Paroxysmal Dyskinesia

Technical data

Gene: PIGN

Chromosome: 1

Variant: g.14705240C>T

Breeds

Soft Coated Wheaten Terrier

Spinal dysraphism

Technical data

Gene: NKX2-8

Chromosome: 8

Variant: g.15149895delinsAA

Neuroaxonal Dystrophy (NAD) (var. 1)

Technical data

Gene: VPS11

Chromosome: 5

Variant: g.14777774T>C

Clinical signs

neuroaxonal dystrophy, ataxia, hypermetria, nystagmus.

Breeds

American Rottweiler, Rottweiler (European), Rottweiler

Neuroaxonal Dystrophy (NAD) (var. 2)

Technical data

Gene: PLA2G6

Chromosome: 19

Variant: g.26544820G>A

Breeds

Papillon, American Rottweiler, Rottweiler (European), Rottweiler

Neuroaxonal dystrophy/neuroid lipofuscinosis (NCL1)(var.1)

Technical data

Gene: PPT1

Chromosome: 15

Variant: g.2860424G>A

Breeds

Cane Corso

Neuroaxonal dystrophy/neuroid lipofuscinosis (NCL1)(var.2)

Technical data

Gene: PPT1

Chromosome: 15

Variant: g.2883477_2883478insC

Breeds

Dachshund, Miniature Dachshund

Alexander disease

Technical data

Gene: GFAP

Chromosome: 9

Variant: g.18572769G>A

Breeds

Labrador

Krabbe disease

Technical data

Gene: GALC

Chromosome: 8

Variant: g.59311801T>G

Breeds

West Highland White Terrier

Krabbe disease (variant 2)

Technical data

Gene: GALC

Chromosome: 8

Variant: g.58893972G>A

Neurodegenerative Vacuolar Storage Disease

Technical data

Gene: ATG4D

Chromosome: 20

Variant: g.50618958C>T

Breeds

Lagotto Romagnolo

Intervertebral disc disease (IVDD) (risk marker)

Technical data

Gene: FGF4-chr12

Chromosome: 12

Variant: g.33710179_33710180ins_3.2Mb

Clinical signs

Pain upon palpation of the spine, ataxia, imbalance, urinary and/or fecal dysfunction.

Breeds

Basset Hound, Beagle, Bichon Frise, French Bulldog, Chinese Crested Dog, Cavalier King Charles Spaniel, Chesapeake Bay Retriever, Chihuahua, American Cocker Spaniel, Coton De Tulear, Dachshund, Miniature Dachshund, Miniature Dachshund, Havanese, Jack Russell Terrier, Lhasa Apso, Nova Scotia Duck Tolling Retriever, Miniature American Shepherd, Pekingese, Miniature Pinscher, Shih Tzu, English Springer Spaniel, Welsh Corgi Cardigan, Campeiro Bulldog, Poodle

Leigh necrotizing encephalopathy

Technical data

Gene: SLC19A3

Chromosome: 25

Variant: g.40417443delinsTTGCA

Breeds

Siberian Husky

Neonatal Encephalopathy

Technical data

Gene: ATF2

Chromosome: 36

Variant: g.19078954A>C

Breeds

Poodle

Focal Epilepsy

Technical data

Gene: LGI2

Chromosome: 3

Variant: g.85210442A>T

Clinical signs

convulsions, tremors, rigidity, ataxia, hypermetria

Breeds

Lagotto Romagnolo

Generalized Myoclonic Epilepsy

Technical data

Gene: DIRAS1

Chromosome: 20

Variant: g.56474668_56474671del

Breeds

Rhodesian Ridgeback

Hyperekplexia (Startle's disease)

Technical data

Gene: SLC6A5

Chromosome: 21

Variant: g.42583699_42587925del

Breeds

Irish Wolfhound

Hyperekplexia/Start Disease

Technical data

Gene: GLRA1

Chromosome: 4

Variant: g.58338954_58338989del

Breeds

Miniature American Shepherd

Hypomyelination of the central nervous system

Technical data

Gene: FNIP2

Chromosome: 15

Variant: g.55928284delA

Clinical signs

Generalized tremors, severe ataxia, dysmetria, nystagmus

Breeds

Chow Chow, Weimaraner

Cerebellar Hypoplasia

Technical data

Gene: VLDLR

Chromosome: 1

Variant: g.91266144del

L-2-hydroxyglutaric acidemia / L-2-Hydroxyglutaric aciduria (variant 2)

Technical data

Gene: L2HGDH

Chromosome: 8

Variant: g.26723470G>A

Clinical signs

Kyphosis, hypermetria, ataxia, behavioral changes, dementia, seizures

Breeds

Staffordshire Bull Terrier, Staffordshire Bull Terrier, Biewer Terrier, Yorkshire Terrier

Leukodystrophy

Technical data

Gene: TSEN54

Chromosome: 9

Variant: g.5015506C>T

Breeds

Schnauzer

Leukoencephalomyelopathy (PML) - variant 1

Technical data

Gene: NAPEPLD

Chromosome: 18

Variant: g.16987327_16987328insC

Clinical signs

Clinical signs: hypermetria, ataxia, decreased proprioception.

Breeds

Great Dane, American Rottweiler, Rottweiler (European), Rottweiler

Leukoencephalomyelopathy (PML) - variant 2

Technical data

Gene: NAPEPLD

Chromosome: 18

Variant: g.16987520G>C

Breeds

Leonberger

Neuronal Ceroid Lipofuscinosis (NCL10)

Technical data

Gene: CTSD

Chromosome: 18

Variant: g.46013354C>T

Neuronal Ceroid Lipofuscinosis 12 (NCL12)(var. 1)

Technical data

Gene: ATP13A2

Chromosome: 2

Variant: g.81208162C>T

Clinical signs

Behavioral changes, cognitive decline, ataxia, dementia, seizures, aggression, tremors, moderate visual impairment.

Breeds

Australian Cattle Driver

Neuronal Ceroid Lipofuscinosis 12 (NCL12)(var. 2)

Technical data

Gene: ATP13A2

Chromosome: 2

Variant: g.81210367del

Clinical signs

Behavioral changes, cognitive decline, ataxia, dementia, seizures, aggression, tremors, moderate visual impairment.

Breeds

Tibetan Terrier

Neuronal Ceroid Lipofuscinosis 2 (NCL2)

Technical data

Gene: TPP1

Chromosome: 21

Variant: g.29925074del

Neuronal ceroid lipofuscinosis 4A (NCL4A) / Cerebellar ataxia

Technical data

Gene: ARSG

Chromosome: 9

Variant: g.15071276G>A

Clinical signs

Cognitive impairment, motor impairment, ataxia, seizures

Breeds

American Pit Bull Terrier, American Staffordshire Terrier

Neuronal Ceroid Lipofuscinosis 5 (NCL5) (var.1)

Technical data

Gene: CLN5

Chromosome: 22

Variant: g.30574637C>T

Clinical signs

Behavioral changes, hyperactivity, aggression, visual impairment, ataxia, delayed postural responses

Breeds

Australian Cattle Driver, American Border Collie, Border Collie (European)

Neuronal Ceroid Lipofuscinosis 5 (NCL5) (var.2)

Technical data

Gene: CLN5

Chromosome: 22

Variant: g.30574950_30574951del

Clinical signs

Behavioral changes, hyperactivity, aggression, visual impairment, ataxia, delayed postural responses

Breeds

Golden Retriever

Neuronal Ceroid Lipofuscinosis 6 (NCL6)

Technical data

Gene: CLN6

Chromosome: 30

Variant: g.32247875A>G

Clinical signs

behavioral changes, visual impairment, ataxia, seizures

Breeds

Australian Shepherd

Neuronal ceroid lipofuscinosis 7 (NCL7)

Technical data

Gene: MFSD8

Chromosome: 19

Variant: g.13010761del

Clinical signs

Behavioral changes, cognitive decline, ataxia, visual impairment

Breeds

Chinese Crested Dog, Chihuahua

Neuronal Ceroid Lipofuscinosis 8 (NCL8)

Technical data

Gene: NCL8

Chromosome: 37

Variant: g.30883950G>A

Breeds

German Shorthaired Pointer, Australian Shepherd

Neuronal Ceroid Lipofuscinosis 8 (NCL8) (var.1)

Technical data

Gene: CLN8

Chromosome: 37

Variant: g.30874627dupT

Breeds

Saluki

Neuronal Ceroid Lipofuscinosis 8 (NCL8) (var.2)

Technical data

Gene: CLN8

Chromosome: 37

Variant: g.30874779T>C

Breeds

Gordon Setter, English Setter

Degenerative myeloencephalopathy

Technical data

Gene: PNPLA8

Chromosome: 18

Variant: g.12143242_12143243dup

Breeds

Australian Shepherd

Degenerative myelopathy (SOD1A)

Technical data

Gene: SOD1

Chromosome: 31

Variant: g.26540342G>A

Clinical signs

Ataxia, muscle atrophy, proprioceptive spasticity, hyporeflexia, hyperesthesia, paraplegia.

Breeds

American cattle herder (Bernes), Bernese (European) cattle herder, American Border Collie, Border Collie (European), Borzoi, Boston Terrier, Boxer, Cavalier King Charles Spaniel, Collie, Dobermann Pinscher (American), Dobermann Pinscher (European), Brazilian Mastiff, Siberian Husky, Jack Russell Terrier, Kerry Blue Terrier, Kuvasz, Norwich Terrier, Gaucho Sheepdog, Australian Shepherd, German Shepherd (American), German Shepherd (European), Miniature American Shepherd, Belgian Shepherd, Shetland Sheepdog, Miniature and Toy Poodles, Medium and Large Poodles, Pug, Brazilian Tracker, Rhodesian Ridgeback, English Springer Spaniel, Staffordshire Bull Terrier, Welsh Corgi Cardigan, Welsh Corgi Pembroke, Whippet, Sertanejo Boca Preta, National Deer, Golden Retriever, Shepherd of Mantiqueira, Maremma Sheepdog, Poodle, East European Shepherd Dog (VEO)

Degenerative myelopathy (SOD1B)

Technical data

Gene: SOD1

Chromosome: 31

Variant: g.23646264A>T

Breeds

American cattle herder (Bernes), Bernese (European) cattle herder

Nemaline Myopathy

Technical data

Gene: NEB

Chromosome: 19

Variant: g.52734272G>T

Breeds

American Bulldog

Narcolepsy (variant 1)

Technical data

Gene: HCRTR2

Chromosome: 12

Variant: g.22517939G>A

Clinical signs

narcolepsy, cataplexy,

Breeds

Dachshund, Miniature Dachshund

Narcolepsy (variant 2)

Technical data

Gene: HCRTR2

Chromosome: 12

Variant: g.22620881G>A

Clinical signs

narcolepsy, cataplexy,

Breeds

Labrador, Australian Cobberdog

Sensory neuropathy

Technical data

Gene: FAM134B/RETREG1

Chromosome: 4

Variant: g.80439639_86910352inv_6.47Mb

Breeds

American Border Collie, Border Collie (European)

Laryngeal paralysis - a high-risk variant

Technical data

Gene: RAPGEF6

Chromosome: 11

Variant: g.19841335insN[36]

Clinical signs

Dysphonia, laryngeal stridor, exercise intolerance, respiratory difficulties, syncope, and cyanosis.

Breeds

Bull Terrier

Juvenile Laryngeal Palsy and Polyneuropathy (JLPP)

Technical data

Gene: RAB3GAP1

Chromosome: 19

Variant: g.37908633del

Clinical signs

laryngeal paralysis, polyneuropathy, ataxia, dyspnea, strabismus, microphthalmia.

Breeds

American Rottweiler, Rottweiler (European), Rottweiler

Polyneuropathy (variant 1)

Technical data

Gene: NDRG1

Chromosome: 13

Variant: g.29691070delGTCCAGGCGA

Polyneuropathy (variant 2)

Technical data

Gene: NDRG1

Chromosome: 13

Variant: g.29714606C>A

Polyneuropathy (variant 3)

Technical data

Gene: GJA9

Chromosome: 15

Variant: g.3863520_3863521del

Polyneuropathy (variant 4)

Technical data

Gene: ARHGEF10

Chromosome: 16

Variant: g.54349199delCACGGTGAGC

Demyelinating Polyneuropathy

Technical data

Gene: SBF2

Chromosome: 21

Variant: g.33080022C>A

Clinical signs

megaesophagus, aphonia, laryngeal paralysis

Breeds

Schnauzer

Episodic Fall Syndrome

Technical data

Gene: BCAN

Chromosome: 7

Variant: g.41325010_41340731delinsAAGGCC

Clinical signs

Spasticity, hypertonicity, hyperekplexia, dyskinesia

Breeds

Cavalier King Charles Spaniel

Acral Mutilation Syndrome (AMS) - var. 1

Technical data

Gene: GDNF

Chromosome: 4

Variant: g.70875561C>T

Clinical signs

acral analgesia, acral mutilation.

Breeds

Blue Picardy Spaniel, English Cocker Spaniel, German Shorthaired Pointer, German Wirehaired Pointer, English Pointer, English Springer Spaniel

Van den Ende-Gupta syndrome

Technical data

Gene: SCARF2

Chromosome: 26

Variant: g.30237714_30237715del

Congenital Myasthenic Syndrome (CMS) (variant 1)

Technical data

Gene: COLQ

Chromosome: 23

Variant: g.27175559G>A

Clinical signs

congenital myasthenia gravis, muscle weakness, fatigue.

Breeds

Golden Retriever

Congenital Myasthenic Syndrome (CMS) (variant 2)

Technical data

Gene: COLQ

Chromosome: 23

Variant: g.27176737T>C

Clinical signs

congenital myasthenia gravis, muscle weakness, fatigue.

Breeds

Labrador

Congenital Myasthenic Syndrome (CMS) (variant 3)

Technical data

Gene: CHAT

Chromosome: 28

Variant: g.1484906G>A

Congenital Myasthenic Syndrome (CMS) (variant 4)

Technical data

Gene: CHRNE

Chromosome: 5

Variant: g.31705137_31705138insC

Breeds

Jack Russell Terrier

X-linked tremor

Technical data

Gene: PLP1

Chromosome: X

Variant: g.77200833A>C

Dermatological

Lethal acrodermatitis

Technical data

Gene: MKLN1

Chromosome: 14

Variant: g.5731405T>G

Clinical signs

erythema, scaly crusts, growth failure, immunosuppression

Breeds

Bull Terrier, Miniature Bull Terrier

Congenital Cornification - variant 1

Technical data

Gene: NSDHL

Chromosome: X

Variant: g.120749179_120763577del

Breeds

Labrador

Congenital Cornification - variant 2

Technical data

Gene: NSDHL

Chromosome: X

Variant: g.120752468G>A

Breeds

Chihuahua

Congenital Cornification - variant 3

Technical data

Gene: NSDHL

Chromosome: X

Variant: g.120752486_120752490del

Breeds

Chihuahua

Dermatomyositis - risk variant 1

Technical data

Gene: PAN2

Chromosome: 10

Variant: g.627760G>A

Clinical signs

dermatomyositis, alopecia, dermatitis, dysphagia, megaesophagus.

Breeds

Collie, Shetland Sheepdog

Dermatomyositis - risk variant 2

Technical data

Gene: MAP3K7CL

Chromosome: 31

Variant: g.24132273_24132282delinsACTCCACAAA>GACT

Clinical signs

dermatomyositis, alopecia, dermatitis, dysphagia, megaesophagus.

Breeds

Collie, Shetland Sheepdog

Ectodermal dysplasia (variant 1)

Technical data

Gene: EDA

Chromosome: X

Variant: g.54511433G>A

Clinical signs

ectodermal dysplasia, alopecia.

Breeds

German Shepherd (American), German Shepherd (European), Swiss White Shepherd, Shepherd of Mantiqueira

Ectodermal dysplasia (variant 2)

Technical data

Gene: PKP1

Chromosome: 7

Variant: g.1966531C>G

Darier's disease

Technical data

Gene: ATP2A2

Chromosome: 26

Variant: g.8434781A>C

Breeds

Shih Tzu

Dystrophic Epidermolysis Bullosa

Technical data

Gene: COL7A1

Chromosome: 20

Variant: g.40538034G>A

Breeds

Golden Retriever

Junctional Epidermolysis Bullosa

Technical data

Gene: LAMA3

Chromosome: 7

Variant: g.64427161T>A

Breeds

Australian Cattle Driver, German Shorthaired Pointer

Hereditary hyperkeratosis of the footpads (variant 1)

Technical data

Gene: DSG1

Chromosome: 7

Variant: g.58163636_58163640del

Hereditary hyperkeratosis of the footpads (variant 2)

Technical data

Gene: KRT16

Chromosome: 9

Variant: g.21170013_21170014delinsCGGA

Clinical signs

palmoplantar fissures, keratinous proliferation

Breeds

Dogue de Bordeaux

Hereditary hyperkeratosis of the footpads (variant 3)

Technical data

Gene: KRT16

Chromosome: 9

Variant: g.21170028del

Hereditary hyperkeratosis of the footpads (variant 4)

Technical data

Gene: FAM83G

Chromosome: 5

Variant: g.41055619G>C

Ichthyosis (variant 1)

Technical data

Gene: SLC27A4

Chromosome: 9

Variant: g.55168916C>T

Clinical signs

scaling, hyperkeratosis,

Breeds

Great Dane

Ichthyosis (variant 2)

Technical data

Gene: PNPLA1

Chromosome: 12

Variant: g.5417390_5417392delinsTACTACTA

Clinical signs

Scaling, seborrhea, hypotrichosis.

Breeds

Golden Retriever

Ichthyosis (variant 3)

Technical data

Gene: NIPAL4

Chromosome: 4

Variant: g.52737278del

Breeds

American Bully, American Bully XL / Monster, English (American) Bulldog, English Bulldog (European), Campeiro Bulldog, American Bully

Ichthyosis (variant 4)

Technical data

Gene: ASPRV1

Chromosome: 10

Variant: g.68587027A>G

Clinical signs

Scaling, seborrhea, hypotrichosis.

Breeds

German Shepherd (American), German Shepherd (European), Golden Retriever, Shepherd of Mantiqueira

Ichthyosis (variant 5)

Technical data

Gene: ABHD5

Chromosome: 23

Variant: g.2274932-2274945: 14 bp del

Breeds

Golden Retriever

Ichthyosis/ epidermolytic hyperkeratosis - var. 1

Technical data

Gene: KRT10

Chromosome: 9

Variant: g.21814695G>A

Breeds

Chihuahua

Ichthyosis/ epidermolytic hyperkeratosis - var. 2

Technical data

Gene: KRT10

Chromosome: 9

Variant: g.21866234G>T

Breeds

Norfolk Terrier

Hereditary Nasal Parakeratosis (HNPK) (var. 1)

Technical data

Gene: SUV39H2

Chromosome: 2

Variant: g.21731842A>C

Clinical signs

nasal parakeratosis, dry snout,

Breeds

Labrador, Australian Cobberdog

Hereditary Nasal Parakeratosis (HNPK) (var. 2)

Technical data

Gene: SUV39H2

Chromosome: 2

Variant: g.21731812_21731815del

Clinical signs

nasal parakeratosis, dry snout,

Breeds

Greyhound

Ehlers-Danlos syndrome/cutaneous asthenia (variant 1)

Technical data

Gene: COL5A1

Chromosome: 9

Variant: g.50806168delG

Breeds

Labrador

Ehlers-Danlos syndrome/cutaneous asthenia (variant 2)

Technical data

Gene: COL5A1

Chromosome: 9

Variant: g.50832936G>A

Ophthalmic

Achromatopsia/ hemeralopia (variant 1)

Technical data

Gene: CNGA3

Chromosome: 10

Variant: g.44234861C>T

Clinical signs

Achromatopsia, nystagmus, mydriasis, light hypersensitivity.

Breeds

German Shepherd (American), German Shepherd (European), Shepherd of Mantiqueira

Achromatopsia/ hemeralopia (variant 2)

Technical data

Gene: CNGB3

Chromosome: 29

Variant: g.32837065C>T

Breeds

German Shorthaired Pointer

Achromatopsia/ hemeralopia (variant 3)

Technical data

Gene: CNGA3

Chromosome: 10

Variant: g.44234200_44234202del

Clinical signs

Achromatopsia, nystagmus, mydriasis, light hypersensitivity.

Breeds

Labrador

Collie Eye Anomaly (CEA)

Technical data

Gene: NHEJ1

Chromosome: 37

Variant: g.25698030_25705826del

Clinical signs

Blindness, coloboma, choroidal hypoplasia, sclera, retina, choroid, visual impairment.

Breeds

Bearded Collie, American Border Collie, Border Collie (European), Collie, Gaucho Sheepdog, Australian Shepherd, Miniature American Shepherd, Shetland Sheepdog

Early-onset Progressive Retinal Atrophy

Technical data

Gene: CCDC66

Chromosome: 20

Variant: g.33717704_33717705insT

Progressive Generalized Retinal Atrophy (PRAg)

Technical data

Gene: CCDC66

Chromosome: 20

Variant: g.33745452_33745453insT

Progressive Retinal Atrophy - crd4

Technical data

Gene: RPGRIP1

Chromosome: 15

Variant: g.18332036_18332037ins[A[29];GGAAGCAACAGGATG]

Clinical signs

Blindness, photophobia

Breeds

Dachshund, Miniature Dachshund

Progressive Retinal Atrophy - Late Onset

Technical data

Gene: SAG

Chromosome: 25

Variant: g.44843440T>C

Clinical signs

Blindness, photophobia

Breeds

Basenji

Progressive retinal atrophy (PRA type 5)

Technical data

Gene: NECAP1

Chromosome: 27

Variant: g.37468611G>A

Clinical signs

Blindness, photophobia

Breeds

Giant Schnauzer

Progressive Retinal Atrophy (PRA1)

Technical data

Gene: SLC4A3

Chromosome: 37

Variant: g.26145745_26145746insC

Clinical signs

Blindness, photophobia

Breeds

Golden Retriever

Progressive Retinal Atrophy (variant 1)

Technical data

Gene: CNGA1

Chromosome: 13

Variant: g.43831897_43831900del

Breeds

Shetland Sheepdog

Progressive Retinal Atrophy (variant 2)

Technical data

Gene: CNGB1

Chromosome: 2

Variant: g.58622673_58622675delinsCTAGCTAC

Clinical signs

Blindness, photophobia

Breeds

Brussels Griffon, Papillon

Progressive Retinal Atrophy (variant 2)

Technical data

Gene: CNGB1

Chromosome: 2

Variant: g.58622673_58622675delinsCTAGCTAC

Clinical signs

Blindness, photophobia

Progressive Retinal Atrophy (variant 3)

Technical data

Gene: IFT122

Chromosome: 20

Variant: g.5648046C>T

Progressive Dominant Retinal Atrophy (PRA-DA)

Technical data

Gene: RHO

Chromosome: 20

Variant: g.5637394G>C

Breeds

Bullmastiff

X-linked Progressive Retinal Atrophy (XPRA) type 1

Technical data

Gene: RPGR

Chromosome: X

Variant: g.33126490_33126494del

Breeds

Siberian Husky, Samoyed

X-linked Progressive Retinal Atrophy (XPRA) type 2

Technical data

Gene: RPGR

Chromosome: X

Variant: g.33126437_33126438del

Progressive retinal atrophy (PRA 2)

Technical data

Gene: TTC8

Chromosome: 8

Variant: g.60090185del

Clinical signs

Blindness, photophobia

Breeds

Golden Retriever

Progressive Retinal Atrophy/Bardet-Biedl Syndrome (BBS)

Technical data

Gene: BBS2

Chromosome: 2

Variant: g.59693737G>C

Clinical signs

Blindness, photophobia, dental changes

Progressive Retinal Atrophy (PRA - crd1) (variant 1)

Technical data

Gene: PDE6B

Chromosome: 3

Variant: g.91747713C>T

Clinical signs

Blindness, photophobia

Breeds

Irish Setter

Progressive Retinal Atrophy (PRA - crd1) (variant 2)

Technical data

Gene: PDE6B

Chromosome: 3

Variant: g.91747685_91747686insGGACTTCA

Clinical signs

Blindness, photophobia

Breeds

Sloughi

Progressive Retinal Atrophy (PRA - crd1) (variant 3)

Technical data

Gene: PDE6B

Chromosome: 3

Variant: g.91747728_91747730del

Clinical signs

Blindness, photophobia

Breeds

American Staffordshire Terrier

Progressive Retinal Atrophy (PRA/PRCD)

Technical data

Gene: PRCD

Chromosome: 9

Variant: g.4188663C>T

Clinical signs

Blindness, photophobia

Breeds

Australian Cattle Driver, Portuguese Water Dog, Chinese Crested Dog, American Cocker Spaniel, English Cocker Spaniel, Kuvasz, Labrador, Lagotto Romagnolo, Australian Shepherd, Miniature American Shepherd, Miniature and Toy Poodles, Medium and Large Poodles, English Springer Spaniel, Xoloitzcuintle, Yakutian Laika, Golden Retriever, Poodle

Progressive Retinal Atrophy (CRD3)

Technical data

Gene: PDE6A

Chromosome: 4

Variant: g.59145361del

Breeds

Chinese Crested Dog, Keeshond, German Spitz, Large German Spitz, Medium German Spitz, Small German Spitz

Hereditary Cataract (HC) (variant 1)

Technical data

Gene: HSF4

Chromosome: 5

Variant: g.82198105del

Clinical signs

Cataract, lens, glaucoma, visual impairment.

Breeds

Australian Shepherd, Miniature American Shepherd

Hereditary Cataract (HC) (variant 2)

Technical data

Gene: HSF4

Chromosome: 5

Variant: g.82198114_82198115insG

Clinical signs

Cataract, lens, glaucoma, visual impairment.

Breeds

Boston Terrier, French Bulldog, Staffordshire Bull Terrier

Juvenile Cataract

Technical data

Gene: FYCO1

Chromosome: 20

Variant: g.42952995del

Breeds

Wirehaired Pointing Griffon

Stationary Congenital Night Blindness

Technical data

Gene: LRIT3

Chromosome: 32

Variant: g.30038863del

Breeds

Beagle

Congenital Stationary Night Blindness

Technical data

Gene: RPE65

Chromosome: 6

Variant: g.76893207_76893210del

Breeds

Briard

Cone and rod dystrophy (crd-2)

Technical data

Gene: IQCB1

Chromosome: 33

Variant: g.25078911insG

Breeds

American Bully, American Bully XL / Monster, American Bully

Cone-Rod Dystrophy

Technical data

Gene: NPHP4

Chromosome: 5

Variant: g.59912991_59913168del

Clinical signs

Photophobia, blindness

Breeds

Dachshund, Miniature Dachshund

Corneal macular dystrophy

Technical data

Gene: LOC489707

Chromosome: 5

Variant: g.75279762C>A

Clinical signs

macular dystrophy, cornea, corneal opacities, visual impairment.

Breeds

Labrador

Stargardt disease (Retinal Degeneration)

Technical data

Gene: ABCA4

Chromosome: 6

Variant: g.55146549insC

Clinical signs

Visual impairment, photophobia, abnormal pupillary reflex

Breeds

Labrador

Primary Open-Angle Glaucoma - var. 1

Technical data

Gene: ADAMTS10

Chromosome: 20

Variant: g.53096339C>T

Clinical signs

Pain, ocular erythema, ocular protrusion, buphthalmos, mydriasis, corneal leukoma.

Breeds

Beagle

Primary Open-Angle Glaucoma - var. 2

Technical data

Gene: ADAMTS17

Chromosome: 3

Variant: g.40614853_40614872del

Clinical signs

Pain, ocular erythema, ocular protrusion, buphthalmos, mydriasis, corneal leukoma.

Breeds

Basset Hound

Primary open-angle glaucoma with or without lens dislocation.

Technical data

Gene: ADAMTS17

Chromosome: 3

Variant: g.40935387_40935392del

Clinical signs

Pain, ocular erythema, ocular protrusion, buphthalmos, mydriasis, corneal leukoma.

Breeds

American Shar Pei, Shar Pei (European)

Goniodysgenesis and glaucoma / primary angle-closure glaucoma

Technical data

Gene: OLFML3

Chromosome: 17

Variant: g.51786924G>A

Clinical signs

Pain, ocular erythema, ocular protrusion, buphthalmos, mydriasis, corneal leukoma.

Breeds

American Border Collie, Border Collie (European)

Primary Lens Dislocation (PLL)

Technical data

Gene: ADAMTS17

Chromosome: 3

Variant: g.40782144G>A

Clinical signs

Sudden pain, ocular erythema, corneal leukoma, strabismus.

Breeds

Basset Hound, Australian Cattle Driver, Bull Terrier, Miniature Bull Terrier, Chinese Crested Dog, Fox Terrier, Jack Russell Terrier, Norwich Terrier, Parson Russell Terrier, Italian Greyhound, American Shar Pei, Shar Pei (European), National Deer

Congenital Eye Malformation

Technical data

Gene: SIX6

Chromosome: 8

Variant: g.35566504C>T

Clinical signs

Optic nerve hypoplasia, retinal dysplasia, nystagmus, mydriasis, cataract, blindness.

Breeds

Golden Retriever

Ligneous membrane/conjunctivitis

Technical data

Gene: PLG

Chromosome: 1

Variant: g.49534880_49540865del

Breeds

Maltese

Microphthalmia

Technical data

Gene: RBP4

Chromosome: 28

Variant: g.7830265_7830267del

Clinical signs

microphthalmia

Multifocal Retinopathy 1

Technical data

Gene: BEST1

Chromosome: 18

Variant: g.54478586G>A

Clinical signs

Retinopathy, tapetal fundus, non-tapetal fundus, retina.

Breeds

American Bully, American Bully XL / Monster, American Staffordshire Terrier, American Bulldog, French Bulldog, Cane Corso, Collie, Coton De Tulear, Dalmatian, Greater Swiss Mountain Dog, Keeshond, Labrador, Lagotto Romagnolo, Mastiff, Australian Shepherd, German Shepherd (American), German Shepherd (European), Miniature American Shepherd, Belgian Shepherd, Swiss White Shepherd, German Spitz, Large German Spitz, Medium German Spitz, Small German Spitz, Pomeranian, Yorkshire Terrier / Biewer Terrier, Shepherd of Mantiqueira, Campeiro Bulldog, American Bully, Biewer Terrier, East European Shepherd Dog (VEO)

Multifocal Retinopathy 2

Technical data

Gene: BEST1

Chromosome: 18

Variant: g.54476143C>T

Clinical signs

Retinopathy, tapetal fundus, non-tapetal fundus, retina.

Breeds

Coton De Tulear

Multifocal Retinopathy 3

Technical data

Gene: BEST1

Chromosome: 18

Variant: g.54470590del

Dry Eye Syndrome

Technical data

Gene: FAM83H

Chromosome: 13

Variant: g.37328055del

Clinical signs

Dry eye, keratoconjunctivitis sicca, ichthyosiform dermatosis, corneal ulcer.

Breeds

Cavalier King Charles Spaniel

Dental

Amelogenesis Imperfecta/Familial Enamel Hypoplasia (FEH) (var. 1)

Technical data

Gene: ACPT

Chromosome: 1

Variant: g.106051995insC

Clinical signs

Dental enamel hypoplasia, tooth pigmentation

Breeds

Akita

Amelogenesis Imperfecta/Familial Enamel Hypoplasia (FEH) (var. 2)

Technical data

Gene: SLC24A4

Chromosome: 8

Variant: g.1679121_1679122: 21 bp insertion

Clinical signs

Dental enamel hypoplasia, tooth pigmentation

Breeds

Samoyed

Amelogenesis Imperfecta/Familial Enamel Hypoplasia (FEH) (var. 3)

Technical data

Gene: ENAM

Chromosome: 13

Variant: g.59946494delTTTCC

Clinical signs

Dental enamel hypoplasia, tooth pigmentation

Breeds

Italian Greyhound

Raine's Syndrome or Dental Hypomineralization

Technical data

Gene: FAM20C

Chromosome: 6

Variant: g.16452327G>A

Clinical signs

Raine's syndrome, dental hypomineralization, pulpitis, dental pulp, dental enamel.

Breeds

American Border Collie, Border Collie (European), Gaucho Sheepdog

Hematological

May-Hegglin anomaly

Technical data

Gene: MYH9

Chromosome: 10

Variant: g.28120346G>A

Clinical signs

Thrombocytopenia, with the presence of macrothrombocytes of variable shape, frequently fusiform.

Breeds

Pug

Pyruvate kinase deficiency (variant 1)

Technical data

Gene: PKLR

Chromosome: 7

Variant: g.42268632C>T

Clinical signs

hypochromic macrocytic regenerative hemolytic anemia

Breeds

Labrador

Pyruvate kinase deficiency (variant 2)

Technical data

Gene: PKLR

Chromosome: 7

Variant: g.42268927G>A

Clinical signs

hypochromic macrocytic regenerative hemolytic anemia

Breeds

Beagle

Pyruvate kinase deficiency (variant 3)

Technical data

Gene: PKLR

Chromosome: 7

Variant: g.42268681T>C

Clinical signs

hypochromic macrocytic regenerative hemolytic anemia

Breeds

Pug

Pyruvate kinase deficiency (variant 4)

Technical data

Gene: PKLR

Chromosome: 7

Variant: g.42267825del

Clinical signs

hypochromic macrocytic regenerative hemolytic anemia

Breeds

Basenji

Prekallikrein deficiency

Technical data

Gene: KLKB1

Chromosome: 16

Variant: g.44501415A>T

Clinical signs

aPTT, hematuria, gastrointestinal bleeding, coagulation cascade

Breeds

Shih Tzu

Factor VII deficiency

Technical data

Gene: F7

Chromosome: 22

Variant: g.60578895G>A

Clinical signs

Factor VII, prothrombin time, PT, coagulation cascade.

Breeds

Airedale Terrier, Beagle, Brazilian Tracker, National Deer, Schnauzer

Platelet dysfunction (thrombopathy)

Technical data

Gene: RASGRP1

Chromosome: 18

Variant: g.52417313_52417315del

Clinical signs

nosebleeds, petechiae, hematomas, hemorrhage.

Breeds

Basset Hound

Hemorrhagic Disorder

Technical data

Gene: P2RY12

Chromosome: 23

Variant: g.45909987_45909989del

Breeds

Greater Swiss Mountain Dog

von Willebrand disease Type I

Technical data

Gene: VWF

Chromosome: 27

Variant: g.38951839G>A

Clinical signs

Petechiae, hematomas, epistaxis, hematuria, hemorrhage.

Breeds

American cattle herder (Bernes), Bernese (European) cattle herder, Coton De Tulear, Dachshund, Miniature Dachshund, Dobermann Pinscher (American), Dobermann Pinscher (European), Kerry Blue Terrier, German Shepherd (American), German Shepherd (European), Miniature and Toy Poodles, Medium and Large Poodles, Miniature Schnauzer, Irish Setter, Brazilian Terrier, Welsh Corgi Cardigan, Welsh Corgi Pembroke, West Highland White Terrier, Golden Retriever, Shepherd of Mantiqueira, Poodle, Australian Cobberdog, Doberman Pinscher, East European Shepherd Dog (VEO)

von Willebrand disease Type II

Technical data

Gene: VWF

Chromosome: 27

Variant: g.38924099A>G

Clinical signs

Petechiae, hematomas, epistaxis, hematuria, hemorrhage

Breeds

Chinese Crested Dog, German Shorthaired Pointer

Von Willebrand Disease Type III

Technical data

Gene: VWF

Chromosome: 27

Variant: g.38848106del

Clinical signs

Petechiae, hematomas, epistaxis, hematuria, hemorrhage

Breeds

Shetland Sheepdog

Elliptocytosis

Technical data

Gene: SPTB

Chromosome: 8

Variant: g.39170437G>A

Hemophilia A - Factor VIII deficiency (var. 1)

Technical data

Gene: F8

Chromosome: X

Variant: g.122975611C>T

Clinical signs

Factor VIII, aPTT, coagulation cascade.

Breeds

German Shepherd (American), German Shepherd (European), Swiss White Shepherd, Shepherd of Mantiqueira

Hemophilia A - Factor VIII deficiency (var. 2)

Technical data

Gene: F8

Chromosome: X

Variant: g.122981181G>C

Clinical signs

Factor VIII, aPTT, coagulation cascade.

Breeds

Boxer

Hemophilia A - Factor VIII deficiency (var. 3)

Technical data

Gene: F8

Chromosome: X

Variant: g.123043081C>T

Clinical signs

Factor VIII, aPTT, coagulation cascade.

Breeds

German Shepherd (American), German Shepherd (European), Swiss White Shepherd, Shepherd of Mantiqueira

Hemophilia B – Factor IX Deficiency (var.1)

Technical data

Gene: F9

Chromosome: X

Variant: g.109530868G>A

Clinical signs

Factor IX, coagulation cascade,

Breeds

Afghan Hound, Lhasa Apso, Rhodesian Ridgeback

Hemophilia B – Factor IX Deficiency (var.2)

Technical data

Gene: F9

Chromosome: X

Variant: del gene inteiro

Clinical signs

Factor IX, coagulation cascade,

Breeds

Labrador

Hemophilia B – Factor IX Deficiency (var. 3)

Technical data

Gene: F9

Chromosome: X

Variant: g.109521362C>T

Breeds

Lhasa Apso

Hemophilia B – Factor IX Deficiency (var. 4)

Technical data

Gene: F9

Chromosome: X

Variant: g.109531586_109531587insA

Breeds

Newfoundland

Late postoperative hemorrhage

Technical data

Gene: SERPINF2

Chromosome: 9

Variant: g.45824885C>T

Breeds

Greyhound

Congenital Macrothrombocytopenia

Technical data

Gene: TUBB1

Chromosome: 24

Variant: g.43766144G>A

Clinical signs

In general, the condition does not present any obvious clinical signs.

Breeds

Cavalier King Charles Spaniel

Cyclic neutropenia/Gray Collie Syndrome

Technical data

Gene: AP3B1

Chromosome: 3

Variant: g.28663120_28663121insA

Clinical signs

neutropenia, recurrent infections

Breeds

American Border Collie, Border Collie (European), Collie, Gaucho Sheepdog, Shetland Sheepdog

Polycythemia

Technical data

Gene: JAK2

Chromosome: 1

Variant: g.93416506(MNP_GTCTGT>TTCCTT)

Clinical signs

Polycythemia, hematocrit, erythropoietin.

Breeds

Maltese, Miniature and Toy Poodles, Medium and Large Poodles, West Highland White Terrier, Yorkshire Terrier / Biewer Terrier, Poodle, Biewer Terrier

Bernard-Soulier Syndrome (BSS)

Technical data

Gene: GP9

Chromosome: 20

Variant: g.3025814_3028273del: 265 pb

Breeds

English Cocker Spaniel, Shetland Sheepdog

Canine Scott Syndrome (CSS)

Technical data

Gene: ANO6

Chromosome: 27

Variant: g.8912219C>T

Clinical signs

Scott's syndrome, hemorrhage, hematoma, hemarthrosis, epistaxis.

Breeds

German Shepherd (American), German Shepherd (European), Shepherd of Mantiqueira, East European Shepherd Dog (VEO)

Glanzmann Type I thrombasthenia (var. 1)

Technical data

Gene: ITGA2B

Chromosome: 9

Variant: g.19057141C>T

Development

Dento-Skeletal-Retinal Anomaly (DSRA)

Technical data

Gene: MIA3

Chromosome: 38

Variant: g.16920529_16920530del

Clinical signs

skeletal dysplasia; dentinogenesis imperfecta; vision loss

Breeds

Cane Corso

Developmental Lung Disease

Technical data

Gene: LAMP3

Chromosome: 34

Variant: g.16092728C>T

Breeds

Airedale Terrier

Disproportionate Dwarfism

Technical data

Gene: PRKG2

Chromosome: 32

Variant: g.5299068C>A

Breeds

Dogo Argentino

Cleft Palate

Technical data

Gene: ADAMTS20

Chromosome: 27

Variant: g.10553478_10553479del

Clinical signs

cleft lip, cleft palate

Breeds

Nova Scotia Duck Tolling Retriever

Persistent Müllerian duct

Technical data

Gene: AMHR2

Chromosome: 27

Variant: g.1794738G>A

Clinical signs

Reproductive difficulties, reproductive system abnormalities, hermaphroditism, cryptorchidism

Breeds

Miniature Schnauzer

Musladin-Lueke syndrome

Technical data

Gene: ADAMTSL2

Chromosome: 9

Variant: g.49931561C>T

Breeds

Beagle

Cardiovascular

Ventricular arrhythmia (IVA) - risk variant

Technical data

Gene: QIL1

Chromosome: 20

Variant: g.54343438G>A

Clinical signs

arrhythmia, dyspnea, syncope

Breeds

Rhodesian Ridgeback

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Technical data

Gene: STRN

Chromosome: 17

Variant: g.29270913_29270920del

Clinical signs

Arrhythmia, ventricular ejection, ventricular dilation.

Breeds

Boxer

Dilated Cardiomyopathy (DCM)

Technical data

Gene: RBM20

Chromosome: 28

Variant: g.22146844_22146865del

Clinical signs

dilated cardiomyopathy, cardiomyopathy, tachycardia, tachypnea, arrhythmia, syncope.

Breeds

Giant Schnauzer, Standard Schnauzer

Juvenile Dilated Cardiomyopathy

Technical data

Gene: ABCC9

Chromosome: 27

Variant: g.21042635C>T

Breeds

Manchester Terrier Standard, Toy Manchester Terrier

Dilated cardiomyopathy, DCM1 risk variant

Technical data

Gene: PDK4

Chromosome: 14

Variant: g.20829667_20829682del

Clinical signs

dilated cardiomyopathy, cardiomyopathy, tachycardia, tachypnea, arrhythmia, syncope.

Breeds

Dobermann Pinscher (American), Dobermann Pinscher (European), Doberman Pinscher

Dilated cardiomyopathy, a risk variant of type 2 diabetes mellitus (DM2)

Technical data

Gene: TTN

Chromosome: 20

Variant: g.45024672C>T

Clinical signs

dilated cardiomyopathy, cardiomyopathy, tachycardia, tachypnea, arrhythmia, syncope.

Breeds

Dobermann Pinscher (American), Dobermann Pinscher (European), Doberman Pinscher

Dilated cardiomyopathy, a risk variant of type 3 diabetes mellitus (DM3).

Technical data

Gene: RNF207

Chromosome: 5

Variant: g.60531090G>A

Clinical signs

dilated cardiomyopathy, cardiomyopathy, tachycardia, tachypnea, arrhythmia, syncope.

Breeds

Dobermann Pinscher (American), Dobermann Pinscher (European), Doberman Pinscher

Dilated cardiomyopathy, risk variant of DCM4

Technical data

Gene: PRKAA2

Chromosome: 5

Variant: g.53109178A>G

Clinical signs

dilated cardiomyopathy, cardiomyopathy, tachycardia, tachypnea, arrhythmia, syncope.

Breeds

Dobermann Pinscher (American), Dobermann Pinscher (European), Doberman Pinscher

Cardiomyopathy and juvenile mortality

Technical data

Gene: YARS2

Chromosome: 27

Variant: g.16157324G>A

Clinical signs

Cardiomyopathy, dyspnea, lethargy, premature death.

Breeds

Belgian Shepherd

Effect of enalapril on cardiac function

Technical data

Gene: ACE

Chromosome: 9

Variant: g.11507816G>A

Clinical signs

The time it takes for symptoms to appear after the start of treatment varies between dogs.

Long QT Syndrome

Technical data

Gene: KCNQ1

Chromosome: 18

Variant: g.46604412C>A

Breeds

English Springer Spaniel

Metabolic

Reducer of copper poisoning (Menkes disease)

Technical data

Gene: ATP7A

Chromosome: X

Variant: g.60279238C>T

Clinical signs

-

Breeds

Labrador, Australian Cobberdog

Catalase Deficiency

Technical data

Gene: CAT

Chromosome: 18

Variant: g.33397548C>T

Clinical signs

Ulcers in the oral region

Breeds

Beagle

Phosphofructokinase deficiency/glycogen storage disease VII (var. 1)

Technical data

Gene: PFKM

Chromosome: 27

Variant: g.6620819C>T

Breeds

American Cocker Spaniel, English Cocker Spaniel, Whippet

Phosphofructokinase deficiency/glycogen storage disease VII (var. 2)

Technical data

Gene: PFKM

Chromosome: 27

Variant: g.6631627G>A

Glycogen storage disease II

Technical data

Gene: GAA

Chromosome: 9

Variant: g.1603730C>T

Wilson's disease (copper poisoning)

Technical data

Gene: ATP7B

Chromosome: 22

Variant: g.225097G>A

Clinical signs

Wilson, copper, liver cirrhosis, neuronal degeneration.

Breeds

Labrador, Australian Cobberdog

Glycogen Storage Disease III

Technical data

Gene: AGL

Chromosome: 6

Variant: g.50050451delT

Fucosidosis

Technical data

Gene: FUCA1

Chromosome: 2

Variant: g.75665866_75665879del

GM1 gangliosidosis (var. 1)

Technical data

Gene: GLB1

Chromosome: 23

Variant: g.3754313G>A

Breeds

Portuguese Water Dog

GM1 gangliosidosis (var. 2)

Technical data

Gene: GLB1

Chromosome: 23

Variant: g.3796315delC

Breeds

Shiba Inu

GM1 gangliosidosis (var. 3)

Technical data

Gene: GLB1

Chromosome: 23

Variant: g.3796356insAGGATCCCAGACTTGCCCCA

GM2 Gangliosidosis

Technical data

Gene: HEXB

Chromosome: 2

Variant: g.57225684delG

Breeds

Shiba Inu, Poodle

Malignant Hyperthermia (MH)

Technical data

Gene: RYR1

Chromosome: 1

Variant: g.114562165A>G

Clinical signs

Hypercapnia, tachycardia, hyperthermia, arrhythmia, rhabdomyolysis, renal failure, anesthesia.

Breeds

German Shorthaired Pointer, Greyhound, Labrador, English Springer Spaniel

L-2-hydroxyglutaric acidemia / L-2-Hydroxyglutaric aciduria (variant 1)

Technical data

Gene: L2HGDH

Chromosome: 8

Variant: g.26760351T>C

Clinical signs

Kyphosis, hypermetria, ataxia, behavioral changes, dementia, seizures

Breeds

Yorkshire Terrier / Biewer Terrier, Yorkshire Terrier

MDR1 - var. 1

Technical data

Gene: ABCB1

Chromosome: 14

Variant: g.13726594_13726597del

Clinical signs

Mydriasis, sialorrhea, ataxia, convulsion

Breeds

American Border Collie, Border Collie (European), Collie, Old English Sheepdog, Gaucho Sheepdog, German Shepherd (American), Miniature American Shepherd, Shetland Sheepdog, Shepherd of Mantiqueira, East European Shepherd Dog (VEO)

MDR1 - var. 2

Technical data

Gene: ABCB1

Chromosome: 14

Variant: g.13742402A>C

Clinical signs

Mydriasis, sialorrhea, ataxia, convulsion

Breeds

Bearded Collie, American Border Collie, Border Collie (European), Gaucho Sheepdog, Australian Shepherd, German Shepherd (American), German Shepherd (European), Swiss White Shepherd, Shetland Sheepdog

MDR1 - var. 3

Technical data

Gene: ABCB1

Chromosome: 14

Variant: g.13737173_13737174insAAT

Clinical signs

Mydriasis, sialorrhea, ataxia, convulsion

Breeds

American Border Collie, Border Collie (European)

Propofol metabolism

Technical data

Gene: CYP2B11

Chromosome: 1

Variant: g.112832805TG>CA

Clinical signs

Clinical signs: hypothermia, postoperative pain, cardiorespiratory depression.

Mucopolysaccharidosis IIIa (MPSIIIa)

Technical data

Gene: SGSH

Chromosome: 9

Variant: g.1544373_15443785delCCA

Clinical signs

Spinocerebellar ataxia, nystagmus

Breeds

Dachshund, Miniature Dachshund

Mucopolysaccharidosis VI (MPSVI) (variant 1)

Technical data

Gene: ARSB

Chromosome: 3

Variant: g.27870253_27870274del

Clinical signs

Epiphyseal dysplasia, vertebral malformations, joint dislocation/subluxation, corneal opacity, growth retardation, muscle hypotrophy

Breeds

Poodle, Siamese

Mucopolysaccharidosis VI (MPSVI) (variant 2)

Technical data

Gene: ARSB

Chromosome: 3

Variant: g.27870445C>T

Clinical signs

Facial, skeletal, and vertebral malformations, joint dislocation/subluxation, corneal opacity, growth retardation, muscle hypotrophy.

Breeds

Great Dane, Siamese

Mucopolysaccharidosis VI (MPSVI) (variant 3)

Technical data

Gene: ARSB

Chromosome: 3

Variant: g.27870253_27870274_del

Mucopolysaccharidosis VI (MPSVI) (variant 4)

Technical data

Gene: ARSB

Chromosome: 3

Variant: g.27870253_27870274_del

Clinical signs

Facial dysmorphia, growth deficit, lysosomal storage disease,

Breeds

Poodle

Mucopolysaccharidosis VI (MPSVI) (variant 5)

Technical data

Gene: ARSB

Chromosome: 3

Variant: g.27870445_C_T

Clinical signs

Epiphyseal dysplasia, vertebral malformations, joint dislocation/subluxation, corneal opacity, growth retardation, muscle hypotrophy

Breeds

Great Dane

Mucopolysaccharidosis VI (MPSVI) (variant 6)

Technical data

Gene: ARSB

Chromosome: 3

Variant: g.27950471G>A

Breeds

Miniature Pinscher

Mucopolysaccharidosis VII (MPSVII) (variant 1)

Technical data

Gene: GUSB

Chromosome: 6

Variant: g.741429C>T

Clinical signs

facial dysmorphia, growth deficit, lysosomal storage,

Breeds

German Shepherd (American), German Shepherd (European), Belgian Shepherd, Shepherd of Mantiqueira

Mucopolysaccharidosis VII (MPSVII) (variant 2)

Technical data

Gene: GUSB

Chromosome: 6

Variant: g.740428G>A

Clinical signs

facial dysmorphia, growth deficit, lysosomal storage,

Breeds

Brazilian Terrier, Siamese

Predisposition to obesity

Technical data

Gene: POMC

Chromosome: 17

Variant: g.19431807_19431821del

Clinical signs

Weight gain, overweight, high body score

Breeds

Flat Coated Retriever, Labrador

Rickets due to vitamin D deficiency type II

Technical data

Gene: VDR

Chromosome: 27

Variant: g.6895068delG

Breeds

Keeshond, German Spitz, Large German Spitz, Medium German Spitz, Small German Spitz, Pomeranian

Periodic fever syndrome (PFS) - risk variant

Technical data

Gene: MTBP

Chromosome: 13

Variant: g.19383758G>A

Clinical signs

Fever, arthritis, erythema, otitis, eye inflammation, intestinal inflammation

Breeds

American Shar Pei, Shar Pei (European)

Xanthinuria type II

Technical data

Gene: MOCOS

Chromosome: 7

Variant: g.53989863del

Breeds

Cavalier King Charles Spaniel, English Cocker Spaniel

Renal/Urinary

Renal cystadenocarcinoma and nodular dermatofibrosis

Technical data

Gene: FLCN

Chromosome: 5

Variant: g.42186445A>G

Clinical signs

renal cysts, renal cystadenocarcinoma, dermatofibrosis,

Breeds

German Shepherd (American), German Shepherd (European), Shepherd of Mantiqueira

Cystinuria Type IA (variant 1)

Technical data

Gene: SLC3A1

Chromosome: 10

Variant: g.46706001C>T

Clinical signs

Cystinuria, cystitis, hematuria, strangury, renal failure.

Breeds

Newfoundland

Cystinuria Type IA (variant 2)

Technical data

Gene: SLC3A1

Chromosome: 10

Variant: g.46700948del

Clinical signs

Cystinuria, cystitis, hematuria, strangury, renal failure.

Breeds

Labrador, Australian Cobberdog

Cystinuria Type IIA

Technical data

Gene: SLC3A1

Chromosome: 10

Variant: g.46725151_46725156del

Clinical signs

Cystinuria, cystitis, hematuria, strangury, renal failure.

Breeds

Australian Cattle Driver

Cystinuria Type IIB

Technical data

Gene: SLC7A9

Chromosome: 1

Variant: g.119211940G>A

Clinical signs

Cystinuria, cystitis, hematuria, strangury, renal failure.

Breeds

Miniature Pinscher

Cystinuria type III-A

Technical data

Gene: SLC3A1

Chromosome: 10

Variant: g.46735617 A>G

Clinical signs

Cystinuria, cystitis, hematuria, strangury, renal failure.

Breeds

French Bulldog

Cystinuria type III-B

Technical data

Gene: SLC7A9

Chromosome: 1

Variant: g.119209134G>A

Clinical signs

Cystinuria, cystitis, hematuria, strangury, renal failure.

Breeds

French Bulldog

Renal Cystic Dysplasia and Hepatic Fibrosis

Technical data

Gene: INPP5E

Chromosome: 9

Variant: g.49069064G>A

Breeds

Norwich Terrier

Polycystic kidney disease

Technical data

Gene: PKD1

Chromosome: 6

Variant: g.38856816G>A

Breeds

Bull Terrier

Primary Hyperoxaluria

Technical data

Gene: AGXT

Chromosome: 25

Variant: g.50968854G>A

Breeds

Coton De Tulear

Hyperuricosuria (HUU)

Technical data

Gene: SLC2A9

Chromosome: 3

Variant: g.69456869G>T

Clinical signs

uric acid, hyperuricosuria, urolithiasis, ammonium urate, pollakiuria, hematuria, dysuria, hyperkalemia, metabolic acidosis, azotemia.

Breeds

American Bully, American Bully XL / Monster, American Staffordshire Terrier, Borzoi, American Bulldog, French Bulldog, Collie, Coton De Tulear, Dalmatian, German Shorthaired Pointer, Greater Swiss Mountain Dog, Jack Russell Terrier, Keeshond, Labrador, Lagotto Romagnolo, Mastiff, Parson Russell Terrier, Australian Shepherd, German Shepherd (American), German Shepherd (European), Miniature American Shepherd, Belgian Shepherd, Swiss White Shepherd, Miniature Schnauzer, German Spitz, Large German Spitz, Medium German Spitz, Small German Spitz, Pomeranian, Vizsla, Yorkshire Terrier / Biewer Terrier, Shepherd of Mantiqueira, Campeiro Bulldog, American Bully, Biewer Terrier, Australian Cobberdog, East European Shepherd Dog (VEO)

Hereditary X-linked nephropathy (Alport syndrome) (var. 1)

Technical data

Gene: COL4A5

Chromosome: X

Variant: g.82196868G>T

Clinical signs

Alport syndrome, nephropathy, proteinuria, hematuria.

Breeds

Samoyed

Hereditary nephropathy (variant 1)

Technical data

Gene: COL4A4

Chromosome: 25

Variant: g.39893376G>A

Clinical signs

polyuria, anorexia, proteinuria, anemia, azotemia, vomiting

Breeds

English Springer Spaniel

Hereditary nephropathy (variant 2)

Technical data

Gene: COL4A4

Chromosome: 25

Variant: g.39953906T>A

Clinical signs

polyuria, anorexia, proteinuria, anemia, azotemia, vomiting

Breeds

English Cocker Spaniel

X-linked Hereditary Nephropathy - var. 1

Technical data

Gene: COL4A5

Chromosome: X

Variant: g.82196868G>T

Hereditary Urolithiasis due to Calcium Oxalate

Technical data

Gene: AGXT

Chromosome: 25

Variant: g.50968854G>A

Breeds

Coton De Tulear

Skeletal

Chondrodysplasia (variant 1)

Technical data

Gene: SLC13A1

Chromosome: 14

Variant: g.60628774_60758561del

Clinical signs

chondrodysplasia, arthritis, prognathism.

Breeds

Poodle

Skeletal dysplasia type 2

Technical data

Gene: COL11A2

Chromosome: 12

Variant: g.2652874C>G

Clinical signs

skeletal dysplasia

Breeds

Labrador

Oculoskeletal dysplasia 2 (retinal dysplasia and dwarfism 2)

Technical data

Gene: COL9A2

Chromosome: 15

Variant: g.2645695_2646962 : 1267 bp deletion

Clinical signs

dwarfism, retinal dysplasia, retinal detachment, cataract

Breeds

Samoyed

Osteogenesis Imperfecta (variant 1)

Technical data

Gene: SERPINH1

Chromosome: 21

Variant: g.23033735A>G

Clinical signs

multiple fractures, weakness of joints and tendons

Breeds

Dachshund, Miniature Dachshund

Osteogenesis Imperfecta (variant 2)

Technical data

Gene: COL1A2

Chromosome: 14

Variant: g.19918265_19918268delinsTGTCATTGG

Clinical signs

multiple fractures, weakness of joints and tendons

Breeds

Beagle

Osteogenesis Imperfecta (variant 3)

Technical data

Gene: COL1A2

Chromosome: 14

Variant: g.19898487G>A

Clinical signs

multiple fractures, weakness of joints and tendons

Breeds

Chow Chow

Osteogenesis Imperfecta type III

Technical data

Gene: COL1A1

Chromosome: 9

Variant: g.26193593C>G

Clinical signs

multiple fractures, weakness of joints and tendons

Breeds

Golden Retriever

Craniomandibular Osteopathy (CMO) (var. 1)

Technical data

Gene: SLC37A2

Chromosome: 5

Variant: g.9387327G>A

Clinical signs

Bone proliferation, dysphagia, jaw pain, fever, loss of appetite.

Breeds

Cairn Terrier, Scottish Terrier, West Highland White Terrier

Musculoskeletal

Chondrodysplasia (variant 2)

Technical data

Gene: ITGA10

Chromosome: 17

Variant: g.58703935G>A

Spondylocostal dysostosis

Technical data

Gene: HES7

Chromosome: 5

Variant: g.32945846del

Oculoskeletal dysplasia 1 (retinal dysplasia and dwarfism 1)

Technical data

Gene: COL9A3

Chromosome: 24

Variant: g.46653422_46653423insG

Clinical signs

dwarfism, retinal dysplasia, retinal detachment, cataract

Breeds

Labrador

Limb-girdle muscular dystrophy type 3R (LGMDR3) (var. 1)

Technical data

Gene: SGCA

Chromosome: 9

Variant: g.26166312G>A

Muscular dystrophy – Duchenne type (var. 2)

Technical data

Gene: DMD

Chromosome: X

Variant: g.27926946T>C

Clinical signs

Rabbit gait, drooling, difficulty swallowing, muscle atrophy

Breeds

Golden Retriever

Muscular dystrophy – Duchenne type (var. 3)

Technical data

Gene: DMD

Chromosome: X

Variant: g.26956239C>A

Clinical signs

Rabbit gait, drooling, difficulty swallowing, muscle atrophy

Breeds

Cavalier King Charles Spaniel

Muscular dystrophy – Duchenne type (var.1)

Technical data

Gene: DMD

Chromosome: X

Variant: g.27926945C>T

Clinical signs

Rabbit gait, drooling, difficulty swallowing, muscle atrophy

Breeds

Golden Retriever

Congenital Muscular Dystrophy (variant 1)

Technical data

Gene: LAMA2

Chromosome: 1

Variant: g.67734331_67736575del

Breeds

Greyhound

Congenital Muscular Dystrophy (variant 2)

Technical data

Gene: LAMA2

Chromosome: 1

Variant: g.67883271G>A

Breeds

Staffordshire Bull Terrier

Limb-girdle muscular dystrophy type 3R (LGMDR3) (var. 2)

Technical data

Gene: SGCD

Chromosome: 4

Variant: g.53353932_53353933del

Breeds

Boston Terrier

Limb-girdle muscular dystrophy type 3R (LGMDR3) (var. 3)

Technical data

Gene: SGCD

Chromosome: 4

Variant: g.54154870A>G

Breeds

Lagotto Romagnolo

Muscular dystrophy/dystroglycanopathy

Technical data

Gene: LARGE

Chromosome: 10

Variant: g.30357716C>T

Breeds

Labrador

Muscle hypertrophy/double muscle

Technical data

Gene: MSTN

Chromosome: 37

Variant: g.729363delCA

Hypophosphatasia

Technical data

Gene: ALPL

Chromosome: 2

Variant: g.77561953A>C

Centronuclear Myopathy 2

Technical data

Gene: BIN1

Chromosome: 19

Variant: g.23522400A>G

Clinical signs

Myopathy, muscle atrophy, muscle hypotonia, dyspnea.

Breeds

Great Dane

X-linked myotubular myopathy (variant 1)

Technical data

Gene: MTM1

Chromosome: X

Variant: g.118885117C>A

Clinical signs

Myotubular myopathy, muscle hypotonia, dyspnea.

Breeds

Labrador

X-linked myotubular myopathy (variant 2)

Technical data

Gene: MTM1

Chromosome: X

Variant: g.118901282A>C

Breeds

American Rottweiler, Rottweiler (European), Rottweiler

Congenital Myotonia (variant 1)

Technical data

Gene: CLCN1

Chromosome: 16

Variant: g.6366383G>A

Clinical signs

myotonia, congenital myotonia, muscle hypertrophy, hypersalivation, sialorrhea

Breeds

Miniature Schnauzer

Congenital Myotonia (variant 2)

Technical data

Gene: CLCN1

Chromosome: 16

Variant: g.6344729_6344730insT

Clinical signs

myotonia, congenital myotonia, muscle hypertrophy, hypersalivation, sialorrhea

Breeds

Australian Cattle Driver

Congenital Myotonia (variant 3)

Technical data

Gene: CLCN1

Chromosome: 16

Variant: g.6344748_6344749insT

Clinical signs

myotonia, congenital myotonia, muscle hypertrophy, hypersalivation, sialorrhea

Breeds

Australian Cattle Driver

Osteochondromatosis

Technical data

Gene: EXT2

Chromosome: 18

Variant: g.45101754G>T

Breeds

American Staffordshire Terrier

Craniomandibular Osteopathy (CMO) (var. 2)

Technical data

Gene: SLC37A2

Chromosome: 5

Variant: g.9387071C>T

Breeds

Basset Hound

Immunological

Canine Leukocyte Adhesion Deficiency Type I

Technical data

Gene: ITGB2

Chromosome: 31

Variant: g.38537012C>G

Breeds

Irish Setter

Canine Leukocyte Adhesion Deficiency Type III

Technical data

Gene: FERMT3

Chromosome: 18

Variant: g.52835933insGGCAGCCGTCTT

Clinical signs

Anorexia, recurrent infections, neonatal omphalophlebitis, enlarged metaphyses of long bones, enlarged lymph nodes, leukocytosis, neutrophilia.

Breeds

German Shepherd (American), German Shepherd (European), Shepherd of Mantiqueira

C3 deficiency

Technical data

Gene: C3

Chromosome: 20

Variant: g.53573746delC

Component 3 Deficiency

Technical data

Gene: C3

Chromosome: 20

Variant: g.53573746del

Breeds

Brittany Spaniel

Severe Combined Immunodeficiency

Technical data

Gene: RAG1

Chromosome: 18

Variant: g.31631772C>A

X-linked Severe Combined Immunodeficiency - var. 1

Technical data

Gene: IL2RG

Chromosome: X

Variant: g.55483461_55483462insG

Breeds

Welsh Corgi Cardigan

X-linked Severe Combined Immunodeficiency - var. 2

Technical data

Gene: IL2RG

Chromosome: X

Variant: g.55484657_55484660del

Breeds

Basset Hound

Autosomal severe combined immunodeficiency

Technical data

Gene: PRKDC

Chromosome: 29

Variant: g.49588C>A

Breeds

Jack Russell Terrier, Welsh Corgi Cardigan

X-linked severe combined immunodeficiency

Technical data

Gene: IL2RG

Chromosome: X

Variant: g.55483459insG

Trapped Neutrophil Syndrome

Technical data

Gene: VPS13B

Chromosome: 13

Variant: g.1412654del

Clinical signs

trapped neutrophil, trapped neutrophil, polyarthritis, claudication, gastroenteritis.

Breeds

American Border Collie, Border Collie (European), Gaucho Sheepdog

Pulmonary

Primary ciliary dyskinesia (variant 1)

Technical data

Gene: CCDC39

Chromosome: 34

Variant: g.13952270G>A

Clinical signs

Recurrent nasal discharge and cough, fever, leukocytosis, and bronchopneumonia.

Breeds

Old English Sheepdog

Primary ciliary dyskinesia (variant 2)

Technical data

Gene: NME5

Chromosome: 11

Variant: g.25792084del

Breeds

Alaskan Malamute

Recurrent Pulmonary Inflammation

Technical data

Gene: AKNA

Chromosome: 11

Variant: g.68576237_68576240del

Acute Respiratory Distress Syndrome (ARDS)

Technical data

Gene: ANLN

Chromosome: 14

Variant: g.47812143C>T

Breeds

Dalmatian

Acute Respiratory Distress Syndrome

Technical data

Gene: ANLN

Chromosome: 14

Variant: g.47812143C>T

Clinical signs

Tachypnea, cough, noisy breathing, severe respiratory distress

Breeds

Dalmatian

Endocrine

Glycogen storage disease type Ia

Technical data

Gene: G6PC

Chromosome: 9

Variant: g.20138777C>G

Clinical signs

hypoglycemia, lactic acidosis, metabolic acidosis,

Breeds

Maltese, Biewer Terrier

Congenital Hypothyroidism

Technical data

Gene: TPO

Chromosome: 17

Variant: g.801598T>C

Breeds

French Bulldog

Congenital hypothyroidism with goiter

Technical data

Gene: TPO

Chromosome: 17

Variant: g.784624C>T

Clinical signs

hypothyroidism, dwarfism, goiter, epiphyseal dysplasia

Breeds

Fox Terrier, Rat Terrier

Congenital Hypothyroidism with Dyshormonogenic Goiter

Technical data

Gene: SLC5A5

Chromosome: 20

Variant: g.45024672C>T

Breeds

Pekingese, Shih Tzu

Pituitary dwarfism

Technical data

Gene: LHX3

Chromosome: 9

Variant: g.49252491_49252493insACA

Breeds

German Shepherd (American), German Shepherd (European), Shepherd of Mantiqueira, East European Shepherd Dog (VEO)

Gastrointestinal

Intestinal Malabsorption of Cobalamin - var.3

Technical data

Gene: CUBN

Chromosome: 2

Variant: g.19981457G>A

Intestinal Malabsorption of Cobalamin - var.4

Technical data

Gene: AMN

Chromosome: 8

Variant: g.70807271_70807303del

Breeds

Schnauzer

Intestinal malabsorption of cobalamin (var. 1)

Technical data

Gene: CUBN

Chromosome: 2

Variant: g.19796293delC

Clinical signs

Anorexia, Proteinuria, Developmental Delay

Breeds

Beagle

Intestinal malabsorption of cobalamin (var. 2)

Technical data

Gene: CUBN

Chromosome: 2

Variant: g.19974334del

Clinical signs

Anorexia, Proteinuria, Developmental Delay

Breeds

American Border Collie, Border Collie (European)

Gallbladder mucocele - a high-risk variant

Technical data

Gene: ABCB4

Chromosome: 14

Variant: g.13584928_13584929insC

Breeds

Shetland Sheepdog

Sensory

Bilateral Deafness with Vestibular Dysfunction

Technical data

Gene: MYO7A

Chromosome: 21

Variant: g.21563111C>T

Clinical signs

deafness, hearing loss, vestibular syndrome, head tilt, nystagmus, ataxia.

Breeds

Dobermann Pinscher (American), Dobermann Pinscher (European), Doberman Pinscher

Juvenile-onset hearing loss (EOAD)

Technical data

Gene: EPS8L2

Chromosome: 18

Variant: g.25752663_25752674del

Breeds

Rhodesian Ridgeback

Sensorineural hearing loss

Technical data

Gene: LOXHD1

Chromosome: 7

Variant: g.44806821G>C

Breeds

American Rottweiler, Rottweiler (European), Rottweiler

Unilateral deafness with vestibular dysfunction

Technical data

Gene: PTPRQ

Chromosome: 15

Variant: g.22989894_22989895insA

Breeds

Dobermann Pinscher (American), Dobermann Pinscher (European), Doberman Pinscher

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