Tracked Testing, Traits and Diseases

A B C D E F G H I L M N O P

A

Acral Mutilation Syndrome (AMS, SN)

Gene:  GDNF

This genetic variant is associated with an inherited neurological disease characterized by insensitivity to pain, resulting in self-mutilation and injuries to toes and paws.

Acute Respiratory Distress Syndrome (ARDS)

Gene:  ANLN

This genetic variant is associated with an inherited form of ARDS, which occurs when fluid backs up into the air sacs (alveoli) of the lungs, blocking air from entering

B

Brachycephaly

Gene: BMP3

This genetic variant plays a role in determining skull shape in dogs. Brachycephaly described having a short muzzle, but this variant is not the only factor determining muzzle length.

Bernard-Soulier Syndrome

Gene: GP9

This inherited bleeding disorder results in prolonged bleeding, but typically carries a good prognosis with appropriate care

C

Canine Leukocyte Adhesion Deficiency Type III (German Shepherd Type)

Gene: FERMT3

Canine Scott Syndrome (CSS)

Gene: ANO6

This genetic variant is associated with canine Scott syndrome is an inherited blood clotting disorder, leading to platelet defects

 

Cardiomyopathy and Juvenile Mortality

Gene: YARS2

This genetic variant is associated with severe heart disease that can cause death from heart failure by 8 weeks of age

 

Catalase Deficiency

Gene: CAT

This genetic variant is associated with inherited catalase deficiency and dogs typically show no sign of disease. However, ulcers in the mouth can develop. 

 

Cerebellar Cortical Degeneration

Gene: SNX14

This genetic variant is associated with an inherited, progressive neurological disease resulting from cells dying in the cerebellum. Multiple genetic variants are associated with cerebellar degeneration, and this variant is found in Vizslas. This test looks for a variant involving the SNX14 gene

 

Cerebellar Degeneration (HA, CA)

Gene: RAB24

 

Charcot-Marie-Tooth Disease

Gene: MTMR13

This genetic variant results in Charcot-Marie-Tooth Disease is an inherited neurological disease that results in megaesophagus and laryngeal paralysis

Coagulation Factor VII Deficiency

Gene: F7

This genetic variant is associated with coagulation factor VII deficiency, which is a mild, inherited bleeding disorder.

Complement 3 Deficiency

Gene: C3

This genetic variant results in lack of the protein complement component 3, resulting in an increased risk of infections. 

Cone Degeneration (German Shepherd Dog Type) (CD)

Gene: CNGA3

Cone Degeneration (CD) can be caused by multiple genetic variants and results in day blindness. This specific genetic variant involves a SNP in the CNGA3 gene

Congenital Idiopathic Megaesophagus Risk Factor (German Shepherd Type)

Gene: MCHR2

Congenital Methemoglobinemia

Gene: CYB5R3

With this genetic variant, affected dogs have an impaired ability to deliver oxygen to tissues in the body. Clinical signs are typically mild, such as exercise intolerance.

Congenital Stationary Night Blindness (CSNB, LCA)

Gene: RPE65

This rare, inherited eye disease causes slowly progressive degeneration of the retina, causing night blindness that progresses to complete blindness.

Copper Storage Disease

Gene: COMMD1

This genetic variant results in an inherited metabolic condition, characterized by chronic copper accumulation leading to eventual copper toxicosis. 

Craniomandibular Osteopathy (CMO)

Gene: SLC37A2

This inherited skeletal syndrome results in abnormal bone proliferation around the jaw, causing pain and difficulty chewing.

Cyclic Neutropenia (CH, CN)

Gene: AP3B1

This inherited disease affects the immune system of affecting collies. With this disease, a type of white blood cell (neutrophil), cycles between normal and low levels. Dogs are predisposed to developing infections when neutrophils are low.

D

Dandy-Walker-Like Malformation

Gene: VLDLR

This genetic variant is associated with an inherited neurological disease affecting the cerebellum, resulting in tremors, abnormal gait, and other related signs. 

Darier Disease and Associated Infundibular Cyst Formation

Gene: ATP2A2

This genetic variant is associated with an inherited skin disorder that results in multiple crusted plaques within the ears or over the body. 

Degenerative Myelopathy (Common Variant) (DM)

Gene: SOD1

Degenerative myelopathy is an inherited neurologic disorder caused by mutations of the SOD1 gene. This disease displays incomplete penetrance meaning that not every dog which has inherited the genetic risk factors will develop degenerative myelopathy. Multiple genetic variants are associated with this disease, and this tests for 3 specific variants.

Dental Hypomineralization

Gene: FAM20C

Dental hypomineralization is an inherited developmental tooth disease that can progress to pain, inflammation, and dental disease.

Diffuse Cystic Renal Dysplasia & Hepatic Fibrosis

Gene: INPP5E

This inherited developmental disease involving the severe malformation of multiple organs. 

Dry Eye Curly Coat Syndrome (CKSID)

Gene: FAM83H

Dry eye curly coat syndrome is an inherited disease that causes dry eye, dry flaky skin, and abnormal feet.

E

Early Retinal Degeneration (ERD)

Gene: STK38L

This inherited eye disease causes progressive blindness and is associated with two variants in the STK38L gene. 

Ectodermal Dysplasia, X-Linked (Shepherd Type) (XHED, XLED)

Gene: EDA

Ectodermal Dysplasia is an inherited skin disorder. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a SNP involving the EDA gene and was identified in Shepherds. 

Elliptocytosis

Gene: SPTB

With this genetic variant, red blood cells have an abnormal shape and mild anemia results.

Epidermolytic Hyperkeratosis

Gene: KRT10

Epidermolytic Hyperkeratosis is an inherited skin condition in Norfolk Terriers involving the KRT10 gene.

Episodic Falling Syndrome (EDFS)

Gene: BCAN

This genetic variant results in an inherited condition, characterized by muscle spasticity. 

Exercise-Induced Collapse (EIC)

Gene: DNM1

This inherited neuromuscular disorder results in collapse after exercise, and the genetic variant has been associated with this disease in several breeds.

Exfoliative Cutaneous Lupus Erythematosus (ECLE)

Gene: UNC9381

This genetic variant is associated with an inherited form of Lupus that affects the skin.

F

Factor XI Deficiency

Gene: F11

Factor XI Deficiency is an inherited, mild bleeding disorder that can cause excessive bleeding. Multiple genetic variants have been identified that are associated with different manifestations of this disease. Two specific variants are included in this test.

Fucosidosis

Gene: FUCA1

This genetic variant is associated with an inherited neurologic, lysosomal storage disease in English Springer Spaniels.

G

Gallbladder Mucoceles

Gene: ABCB4

This genetic variant is associated with an increased risk of developing a gallbladder mucocele.

 

Glycogen Storage Disease Ia (GSD Ia, GSD1a)

Gene: G6PC

Glycogen Storage Diseases are inherited metabolic diseases. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a SNP involving the G6PC gene and was identified in Maltese. *This test is not for German Pinschers, which is a 76bp SINE insertion in the G6PC gene.

Glycogen Storage Disease IIIa (GSD IIIa)

Gene: AGL

Glycogen Storage Diseases are inherited metabolic diseases. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a deletion involving the AGL gene and was identified in Curly-Coated Retrievers.

Glycogen Storage Disease VII (Wachtelhund Type) (GSD VII, PFK deficiency)

Gene: PFKM

Glycogen Storage Diseases are inherited metabolic diseases. Multiple genetic variants have been identified that are associated with different manifestations of this disease. GSD VII causes red blood cells that are easily damaged. This specific genetic variant investigates a SNP involving the PFKM gene and was identified in Wachtelhund.

Glycogen Storage Disease VII, PFK Deficiency (GSD VII, PFK deficiency)

Gene: PFKM

Glycogen Storage Diseases are inherited metabolic diseases. Multiple genetic variants have been identified that are associated with different manifestations of this disease. GSD VII causes red blood cells that are easily damaged. This specific genetic variant investigates a SNP involving the PFKM gene and was identified in English Springer Spaniels.

H

Haemophilia A/Factor VIII (German Shepherd Type)

Gene: F8 on Chromosome X

Hemophilia A (German Shepherd Dog, Type 1)

Gene: F8

Hemophilia A is an inherited bleeding disorder caused by a deficiency in coagulation factor VIII. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a SNP in the F8 gene and is associated with disease in Shepherds (c.G>A; g.chrX:122975611).

Hemophilia A (German Shepherd Dog, Type 2)

Gene: F8

Hemophilia A is an inherited bleeding disorder caused by a deficiency in coagulation factor VIII. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a SNP in the F8 gene and is associated with disease in Shepherds (c.G>A; g.chrX:123043081).

 

Hereditary Cataracts (HC, JC)

Gene: HSF4

Hereditary Cataracts is an inherited eye disorder. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates an insertion involving the HSF4 gene (c.1 bp insertion (ins C); g.chr5:82198104-82198105).

Hyperuricosuria (HUU)

Gene: SLC2A9

This genetic variant is associated with a kidney disorder that results in high amounts of uric acid in the urine, which may form bladder stones. 

I

Ichthyosis (German Shepherd Type)

Gene: ASPRV1

Inflammatory Myopathy (Shepherd Type)

Gene: SLC35A12

This genetic variant is associated with a severe, inherited muscle disease that progresses to the inability to walk. 

Intervertebral Disc Disease Risk Factor & Chondrodystrophy (CDDY with IVDD)

Gene: FGF4

This genetic variant carries an increased risk of herniated discs and is associated with early disc degeneration.

Intestinal Lipid Malabsorption

Gene: ACSL5

This genetic variant is associated with an inherited metabolic disease due to difficulty absorbing fat. A therapeutic diet can help manage clinical signs.

Ivermectin Sensitivity MDR1 (Multi Drug Resistance)

Gene: MDR1

L

Lagotto Storage Disorder (LSD)

Gene: ATG4D

This genetic variant is associated with an inherited metabolic disorder that results in progressive neurologic dysfunction.

Late Onset Ataxia (LOA, SCA)

Gene: CAPN1

Ataxia is a descriptive term describing movement without coordination. With this genetic variant, affected dogs develop progressive ataxia within their first year of life. 

 

Lethal Acrodermatitis (LAD)

Gene: MLKN1

As the name suggests, this genetic variant is associated with severe, lethal immune system dysfunction.

Leukocyte Adhesion Deficiency, Type I (CLAD, LAD-A)

Gene: ITGB2

Leukocyte adhesion deficiencies are inherited immune disorders that result in abnormal white blood cells and severe immune system impairment. Multiple genetic variants have been identified that are associated with this disease. This specific genetic test investigates a SNP involving the ITGB2 gene (c.G>C; g.chr31:38537012).

Leukocyte Adhesion Deficiency, Type III (CLAD, LAD-III)

Gene: FERMT3

Leukocyte adhesion deficiencies are inherited immune disorders that result in abnormal white blood cells and severe immune system impairment. Multiple genetic variants have been identified that are associated with this disease. This specific genetic test investigates an insertion involving the FERMT3 gene.

Ligneous Membranitis (LM)

Gene: PLG

Dogs with this inherited, chronic inflammatory disease develop severe ulcerations in multiple organs. 

Lundehund Syndrome (LS)

Gene: LEPREL1

This severe gastrointestinal disease affects Norwegian Lundehund.

 

M

Malignant Hyperthermia

Gene: RYR1

 

May-Hegglin Anomaly (MHA)

Gene: MYH9

May-Hegglin Anomaly is an inherited blood disorder involving platelets and neutrophils. Affected dogs are typically asymptomatic.

Mucopolysaccharidosis VII (Shepherd Type) (MPS VII)

Gene: GUSB

Mucopolysaccharidosis is an inherited neurologic, lysosomal storage disorder. Multiple genetic variants have been identified that are associated with different manifestations of this category of diseases. This specific genetic variant investigates a SNP involving the GUSB gene and was identified in Shepherds (c.G>A; g.chr6:741429). 

Multidrug Resistance 1 (MDR1)

Gene: ABCB1

This genetic variant is associated with dysfunction of P-glycoprotein, so affected dogs have a decreased ability to metabolize certain drugs and toxins.

Multifocal Retinopathy 1 (CMR1)

Gene: BEST1

Multifocal Retinopathy is an inherited eye disease that leads to damaged retina, but vision loss does not typically occur. Multiple genetic variants have been identified that are associated with this disease. This test investigates a SNP involving the BEST1 gene (c.C>T; g.chr18:54478586).

Multifocal Retinopathy 2 (CMR2)

Gene: BEST1

Multifocal Retinopathy is an inherited eye disease that leads to damaged retina, but vision loss does not typically occur. Multiple genetic variants have been identified that are associated with this disease. This test investigates a SNP involving the BEST1 gene in Coton de Tulear (c.G>A; g.chr18:54476143).

Multifocal Retinopathy 3 (CMR3)

Gene: BEST1

Multifocal Retinopathy is an inherited eye disease that leads to damaged retina, but vision loss does not typically occur. Multiple genetic variants have been identified that are associated with this disease. This test investigates a deletion involving the BEST1 gene in Finnish Lapphunds, Lapponian Herders, and Swedish Lapphunds (c.1 bp deletion (del C); g.chr18:54470587).

Musladin-Lueke Syndrome (MLS)

Gene: ADAMTSL2

This genetic variant is an inherited disorder involving the connective tissue and leads to abnormal joints.

 

N

Neonatal Ataxia

Gene: GRM1

This genetic variant is associated with an inherited, progressive, neurological disease that results in uncoordinated movement (ataxia) in Coton de Tulear. 

Neonatal Cerebellar Cortical Degeneration (NCCD)

Gene: SPTBN2

This inherited neurologic disease is associated with uncoordinated movement in Beagles.

 

Neonatal Encephalopathy with Seizures (NEWS)

Gene: ATF2

This genetic variant is associated with an inherited neurologic disorder that is most commonly seen in poodles.

 

 

Neuronal Ceroid Lipofuscinosis 1 (NCL, NCL1)

Gene: PPT1

Neuronal Ceroid Lipofuscinosis 1 is a lysosomal storage disease, which is a type of inherited neurologic disorder. Multiple genetic variants have been identified that are associated with different manifestations of NCL. This test investigates an insertion involving the PPT1 gene identified in a Miniature Dachshund (c.1 bp insertion (ins C); g.chr15:2883477-2883478).

 

 

Neuronal Ceroid Lipofuscinosis 10 (NCL, NCL10)

Gene: CTSD

Neuronal Ceroid Lipofuscinosis 10 is a lysosomal storage disease, which is a type of inherited neurologic disorder. Multiple genetic variants have been identified that are associated with different manifestations of NCL. This test investigates a SNP involving the CTSD gene identified in American Bulldogs (c.G>A; g.chr18:46013354). 

 

Neuronal Ceroid Lipofuscinosis 12 (NCL, NCL12)

Gene: ATP13A2

Neuronal Ceroid Lipofuscinosis 12 is a lysosomal storage disease, which is a type of inherited neurologic disorder. Multiple genetic variants have been identified that are associated with different manifestations of NCL. This test investigates a SNP involving the ATP13A2 gene in Australian Cattle Dogs (c.C>T; g.chr2:81208162). 

 

Neuronal Ceroid Lipofuscinosis 2 (NCL, NCL2)

Gene: TPP1

Neuronal Ceroid Lipofuscinosis 2 is a lysosomal storage disease, which is a type of inherited neurologic disorder. Multiple genetic variants have been identified that are associated with different manifestations of NCL. This test investigates a deletion involving the TPP1 gene identified in Dachshund (c.1 bp deletion (del C); g.chr21:29925074). 

 

Neuronal Ceroid Lipofuscinosis 4A (NCL, NCL4A)

Gene: ARSG

Neuronal Ceroid Lipofuscinosis 4A is a lysosomal storage disease, which is a type of inherited neurologic disorder. Multiple genetic variants have been identified that are associated with different manifestations of NCL. This test investigates a SNP involving the ARSG gene identified in American Staffordshire Terriers (c.G>A; g.chr9:15071276).

 

 

Neuronal Ceroid Lipofuscinosis 6 (NCL, NCL6)

Gene: CLN6

Neuronal Ceroid Lipofuscinosis 6 is a lysosomal storage disease, which is a type of inherited neurologic disorder. Multiple genetic variants have been identified that are associated with different manifestations of NCL. This test investigates a SNP involving the CLN6 gene identified in an Australian Shepherd (c.T>C; g.chr30:32247875).

 

 

Neuronal Ceroid Lipofuscinosis 7 (NCL, NCL7)

Gene: MFSD8

Neuronal Ceroid Lipofuscinosis 7 is a lysosomal storage disease, which is a type of inherited neurologic disorder. Multiple genetic variants have been identified that are associated with different manifestations of NCL. This test investigates a deletion involving the MFSD8 gene identified in Chinese Cresteds and Chihuahuas (c.1 bp deletion (del T); g.chr19:13010761).  

 

O

Osteochondrodysplasia

Gene: SLC13A1

This genetic variant is associated with an inherited, musculoskeletal disorder characterized by stunted growth and structural deformities.

P

P2RY12 Receptor Platelet Disorder

Gene: P2RY12

This genetic variant is associated with an inherited bleeding disorder involving abnormal platelets.

Persistent Müllerian Duct Syndrome (PMDS)

Gene: AMHR2

This genetic variant is associated with an inherited disorder of sexual development, causing males to have internal remnants of female organs.

 

Pituitary Dwarfism (Shepherd Type)

Gene: LHX3

This genetic variant involving the LHX3 gene is associated with dwarfism in Shepherd breeds. 

 

Polyneuropathy with Ocular Abnormalities & Neuronal Vacuolation (POANV, WMS1)

Gene: RAB3GAP1

This inherited, developmental disease involves neurologic dysfunction, visual deficits, and other signs associated with polyneuropathy. This genetic test investigates two variants involving the RAB3GAP1 gene. 

 

Pompe Disease (GSD II)

Gene: GAA

Pompe Disease is a glycogen storage disease, which is an inherited metabolic diseases. Multiple genetic variants have been identified that are associated with different manifestations of GSD. This specific genetic variant investigates a SNP involving the GAA gene and was identified in Finnish and Swedish Lapphunds (c.G>A; g.chr9:1603730).

Prekallikrein Deficiency

Gene: KLKB1

This genetic variant is associated with a mild, inherited bleeding disorder due to an abnormality in the blood clotting factor prekallikrein. 

 

Primary Hyperoxaluria (PH1)

Gene: AGXT

This genetic variant is associated with a rare metabolic disorder that can cause kidney stone formation.

Primary Lens Luxation (PLL)

Gene: ADAMTS17

Primary Lens Luxation is an inherited eye disorder. This genetic variant is associated with breakdown of the ligaments that hold the lens in the eye. Without support the lens moves out of place and causes pain.

Primary Open Angle Glaucoma (POAG)

Gene: ADAMTS10

Glaucoma is an eye disease resulting in increased pressure in the eye. Both inherited and noninherited forms of glaucoma exist. This specific genetic variant investigates a SNP in the ADAMS10 gene (c.G>A; g.chr20:53096339).

 

Progressive Retinal Atrophy, Cone-Rod Dystrophy 4 (PRA-crd4/cord1)

Gene: RPGRIP1

Progressive retinal atrophy (PRA) is an inherited, progressive eye disease that leads to blindness. Multiple genetic variants have been identified that are associated with this disease, and novel variants continue to be identified. This specific genetic variant investigates an insertion involving the RPGRIP1 gene (c.44 bp insertion (ins (A)29GGAAGCAACAGGATG) or 59 bp insertion (ins (A)44GGAAGCAACAGGATG); g.chr15:18332036-18332037). 

Progressive Retinal Atrophy, Progressive Rod-Cone Degeneration (PRA-prcd, PRCD)

Gene: PRCD

Progressive retinal atrophy (PRA) is an inherited, progressive eye disease that leads to blindness. Multiple genetic variants have been identified that are associated with this disease, and novel variants continue to be identified. This specific genetic variant investigates a SNP involving the PRCD gene (c.G>A; g.chr9:4188663).

Progressive Retinal Atrophy, Rod-Cone Dysplasia 3 (PRA-rcd3)

Gene: PDE6A

Progressive retinal atrophy (PRA) is an inherited, progressive eye disease that leads to blindness. Multiple genetic variants have been identified that are associated with this disease, and novel variants continue to be identified. This specific genetic variant investigates a deletion involving the PDE6A gene (c.1 bp deletion (del A); g.chr4:59145361). 

Progressive Retinal Atrophy, Rod-Cone Dysplasia 4 (PRA-rcd4)

Gene: C2ORF71

Progressive retinal atrophy (PRA) is an inherited, progressive eye disease that leads to blindness. Multiple genetic variants have been identified that are associated with this disease, and novel variants continue to be identified. This specific genetic variant investigates a deletion involving the C2orf71 gene (c.1 bp insertion (ins C); g.chr17:22907388-22907389). 

Progressive Retinal Atrophy, X-linked 2 (XLPRA2)

Gene: RPGRIP1

Progressive retinal atrophy (PRA) is an inherited, progressive eye disease that leads to blindness. Multiple genetic variants have been identified that are associated with this disease, and novel variants continue to be identified. This specific genetic variant investigates a deletion involving the RPGR gene (c.TC/-; g.chrX:33219485-33219486). 

 

Protein Losing Nephropathy - Variant 1 (PLN)

Gene: KIRREL2

Protein Losing Nephropathy (PLN) is a kidney disorder characterized by protein leaking into the urine. PLN can have multiple causes, including due to infectious disease, immune-mediated disease, and genetic causes. This genetic test investigates two specific genetic variants associated with inherited PLN in Soft-Coated Wheaten Terriers: Variant 1 (KIRREL2 gene) = c.C>G; g.chr1:116785027, Variant 2 (NPHS1 gene) = c.G>A; g.chr1:116806124.

 

Pyruvate Dehydrogenase Deficiency (PDP1)

Gene: PDP1

Pyruvate dehydrogenase (PDP1) is a metabolic disorder characterized by exercise intolerance and weakness in Clumber and Sussex Spaniels.

 

A B C D E F G

A

A Locus (Agouti) - a

German Shepherd Dog Specific3

Gene:  ASIP

The A locus helps determine pattern of coat, such as wolf-sable, black and tan, and recessive black. Please note, this A Locus test is a linkage test with the ASIP gene.

A Locus (Agouti) - aʷ/aᵗ

German Shepherd Dog Specific2

Gene:  ASIP

The A locus helps determine pattern of coat, such as wolf-sable, black and tan, and recessive black. Please note, this A Locus test is a linkage test with the ASIP gene.

A Locus (Agouti) - Aʸ

German Shepherd Dog Specific

Gene:  ASIP

The A locus helps determine pattern of coat, such as wolf-sable, black and tan, and recessive black.
Please note, this A Locus test is a linkage test with the ASIP gene.

As Locus (Saddle Tan)

Gene:  RALY

The saddle tan patterning is determined by this genetic trait

B

B Locus (Brown) - bᵃ

Gene: TYRP1

This brown locus evaluates 6 different alleles for brown.

 

B Locus (Brown) - bᶜ

Gene: TYRP1

This brown locus evaluates 6 different alleles for brown.

 

B Locus (Brown) - bᵈ

Gene: TYRP1

This brown locus evaluates 6 different alleles for brown.

 

B Locus (Brown) - bᵉ

Gene: TYRP1

This brown locus evaluates 6 different alleles for brown.

 

B Locus (Brown) - bʰ

Gene: TYRP1

This brown locus evaluates 6 different alleles for brown.

 

B Locus (Brown) - bˢ

Gene: TYRP1

This brown locus evaluates 6 different alleles for brown.

 

C

Chondrodysplasia (CDPA)

Gene: FGF4

This genetic variant plays a role in determining leg length and tests for an insertion of the FGF4 gene in chromosome 18

 

Coat Composition (Double/Single Coat)

Gene: CFA28

Cu Locus (Curly Hair) - Cuꟲ

Gene: KRT71

This genetic test helps determine curly coat, but it does not apply to every breed

 

Other