AKC DNA + Health Kit - Included Tests

All AKC DNA + Health Kits include:

The AKC DNA Profile of 201 markers for genetic identity and parentage verification purposes
328 genetic variants for health and traits, including coat color

Results are delivered by our trusted service provider (Neogen) with the highest industry standards. Customers receive 2 pdf reports: one letter on analysis for the AKC DNA Profile of 201 markers for your dog’s unique genetic identity, and the other for genetic health and trait results.

Download a pdf of all included tests

The AKC DNA + Health Kit includes over 328 markers for health and traits and every dog receives all markers. However, the AKC DNA Program recommends that breeders perform DNA tests that are relevant to their breed. Some genetic tests recommended by AKC Parent Clubs are not included in the AKC DNA + Health Kit. For more details, visit:

Breed-Specific DNA Test Recommendations

Included Health Tests

Acral Mutilation Syndrome (AMS, SN)

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)

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.

Adult Paroxysmal Dyskinesia (PxD, cPxD)

Paroxysmal dyskinesias (PD) are a group of neurologic conditions characterized by episodes of abnormal posture and movement. Genetic tests for PD are often breed-specific, and this genetic variant is associated with Soft Coated Wheaten Terriers.

Afibrinogenemia (Dachshund Type)

Afibrinogenemia is an inherited bleeding disorder affecting dogs, and this variant is associated with afibrinogenemia in dachshunds.

Alaskan Husky Encephalopathy (AHE)

This genetic variant is associated with an inherited neurological disease caused by a severe thiamine deficiency in Alaskan Huskies.

Alaskan Malamute Polyneuropathy (AMPN)

This progressive, inherited, neuromuscular disease affects Alaskan Malamutes and leads to hind limb weakness, laryngeal problems, and other related clinical signs.

Recommended by the following AKC Parent Clubs: Alaskan Malamute

Amelogenesis Imperfecta (Italian Greyhound Type) (AI, ARAO)

This genetic variant results in an inherited disease of the teeth in Italian Greyhounds, leading to defective enamel, also known as enamel hypoplasia. This variant is primarily cosmetic with no increased risk of dental disease.
Optional for the following AKC Parent Clubs: Italian Greyhound

Amelogenesis Imperfecta (Parson Russell Terrier Type)

This genetic variant results in an inherited disease of the teeth that leads to an increased risk of dental disease.

Ataxia (Norwegian Buhund Type)

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

Benign Familial Juvenile Epilepsy (BFJE)

This inherited neurologic disease reported in Lagotto Romagnolo dogs results in seizures and sometimes ataxia at a young age.

Recommended by the following AKC Parent Clubs: Lagotto Romagnolo

Bernard-Soulier Syndrome

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

Canine Multiple System Degeneration (Chinese Crested Type) (CMSD)

This genetic variant is associated with a progressive inherited neurological disease in Chinese Crested dogs, resulting in tremors and abnormal gait at a young age.

Canine Multiple System Degeneration (Kerry Blue Terrier Type) (CMSD, PNA)

This genetic variant is associated with a progressive inherited neurological disease in Kerry Blue Terriers, resulting in tremors and abnormal gait at a young age.

Canine Scott Syndrome (CSS)

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

Cardiomyopathy and Juvenile Mortality

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

Catalase Deficiency

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

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

This genetic variant carries an increased risk of herniated discs and is associated with early disc degeneration.
Optional for the following AKC Parent Clubs: Chinook

Centronuclear Myopathy (CNM)

This inherited progressive muscle disease affects Labrador Retrievers and results in exercise intolerance, abnormal gait, and other progressive signs of varying severity.

Recommended by the following AKC Parent Clubs: Labrador Retriever

Cerebellar Ataxia (Finnish Hound Type)

This genetic variant is associated with a progressive, early onset, inherited cerebellar ataxia in Finnish hound dogs. Multiple genetic variants are associated with cerebellar ataxia, and non-inheritable causes exist as well. This tests looks for a variant involving the SEL1L gene.

Cerebellar Ataxia 1 (Belgian Shepherd Type)

This genetic variant is associated with a progressive, early onset, inherited cerebellar ataxia in Belgian Shepherds. Multiple genetic variants are associated with cerebellar ataxia, and non-inheritable causes exist as well. This tests looks for a variant involving the KCNJ10 gene.

Cerebellar Ataxia 2 (Belgian Shepherd Type)

This genetic variant is associated with a progressive, early onset, inherited cerebellar ataxia in Belgian Shepherds. Multiple genetic variants are associated with cerebellar ataxia, and non-inheritable causes exist as well. This test looks for a variant involving the ATP1B2 gene.

Cerebellar Cortical Degeneration

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)

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 Gordon Setters and Old English Sheepdogs. This test looks for a variant involving the RAB24 gene.

Recommended by the following AKC Parent Clubs: Old English Sheepdog

Charcot-Marie-Tooth Disease

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

Chondrodysplasia (Karelian Bear Dog & Norwegian Elkhound Type)

This genetic variant involving the ITGA10 gene results in dwarfism (chondrodysplasia) in certain breeds, such as Chinook, Karelian Bear Dog, and Norwegian Elkhound.

Recommended by the following AKC Parent Clubs: Chinook

Cleft Palate & Syndactyly (Nova Scotia Duck Tolling Retriever Type) (CP1, CLPS)

Cleft palate can have many causes, and this variant in the ADAMTS20 gene is a test for one inherited form. Affected dogs have cleft palate (incomplete fusion of their palate) and syndactyly (fusion of their third and fourth toes).

Recommended by the following AKC Parent Clubs: Nova Scotia Duck Tolling Retriever

Coagulation Factor VII Deficiency

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

Recommended by the following AKC Parent Clubs: Scottish Deerhound

Optional for the following AKC Parent Clubs: Beagle

Collie Eye Anomaly (CEA, CH)

Collie eye anomaly (CEA), also known as choroidal hypoplasia (CH), is an inherited eye disease of varying severity.

Recommended by the following AKC Parent Clubs: Boykin Spaniel, Collie, Lancashire Heeler, Mountain Cur

Optional for the following AKC Parent Clubs: Australian Shepherd, Shetland Sheepdog

Complement 3 Deficiency

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

Cone Degeneration (CD)

Cone Degeneration (CD) can be caused by multiple genetic variants and results in day blindness. This specific genetic variant involves a deletion in the CNGB3 gene.
Optional for the following AKC Parent Clubs: Alaskan Malamute

Cone Degeneration (German Shepherd Dog Type) (CD)

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.

Cone Degeneration (German Shorthaired Pointer Type) (CD)

Cone Degeneration (CD) can be caused by multiple genetic variants and results in day blindness. This specific genetic variant involves a SNP in the CNGB3 gene.

Recommended by the following AKC Parent Clubs: German Shorthaired Pointer

Cone Degeneration (Labrador Retriever Type) (CD)

Cone Degeneration (CD) can be caused by multiple genetic variants and results in day blindness. This specific genetic variant is a 3bp deletion involving the CNGA3 gene.

Congenital Hypothyroidism with Goiter (Terrier Type) (CHG)

Although hypothyroidism can have multiple causes, this genetic variant is associated with an inherited, congenital form due to a deficiency in the enzyme required to produce thyroid hormone.

Congenital Idiopathic Megaesophagus Risk Factor (German Shepherd Type)

Megaesophagus can have multiple causes, and this genetic variant has been associated with congenital megaesophagus in some dogs. However, this test is not predictive of disease, and caution should be used in making breeding decisions based on this test.

Congenital Macrothrombocytopenia (Cairn and Norfolk Terrier Type)

This genetic variant is associated with large platelets, but Congenital Macrothrombocytopenia is rarely associated with disease.

Congenital Methemoglobinemia

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 Myasthenic Syndrome (Golden Retriever Type)

This genetic variant results in an inherited neuromuscular disease affecting Golden Retrievers that leads to progressive weakness and collapse. This specific variant is a SNP involving the COLQ gene (c.G/A; g.chr23:27687716).

Congenital Myasthenic Syndrome (Jack Russell Terrier Type) (CMS)

This genetic variant results in an inherited neuromuscular disease that leads to progressive weakness and collapse. This specific variant is a 1 bp insertion involving the CHRNE gene.

Congenital Myasthenic Syndrome (Labrador Retriever Type) (CMS)

This genetic variant results in an inherited neuromuscular disease that leads to progressive weakness and collapse. This specific variant is a SNP involving the COLQ gene (c.T>C; g.chr23:27176737).

Congenital Myasthenic Syndrome (Old Danish Pointer Type) (CMS)

This genetic variant results in an inherited neuromuscular disease affecting Old Danish Pointers that leads to progressive weakness and collapse. This specific variant is a SNP involving the CHAT gene (c.G>A; g.chr28:1484906).

Congenital Stationary Night Blindness (CSNB, LCA)

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

Recommended by the following AKC Parent Clubs: Briard

Copper Storage Disease

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

Recommended by the following AKC Parent Clubs: Bedlington Terrier

Craniomandibular Osteopathy (CMO)

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

Cyclic Neutropenia (CH, CN)

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.

Cystinuria (Australian Cattle Dog Type)

Cystinuria is a kidney disease in dogs that leads to the formation of cystine crystals and stones in the urine. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a deletion in the SLC3A1 gene (c.6 bp deletion (del ACCACC); g.chr10:46725149-46725154).

Cystinuria (Labrador Retriever Type)

Cystinuria is a kidney disease in dogs that leads to the formation of cystine crystals and stones in the urine. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a deletion in the SLC3A1 gene (c.1 bp deletion (del G); g.chr10:46700948).

Cystinuria (Miniature Pinscher Type)

Cystinuria is a kidney disease in dogs that leads to the formation of cystine crystals and stones in the urine. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a SNP in the SLC7A9 gene (c.G>A; g.chr1:119211938).

Cystinuria (Newfoundland Type)

Cystinuria is a kidney disease in dogs that leads to the formation of cystine crystals and stones in the urine. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a SNP in the SLC3A1 gene (c.C>T; g.chr10:46706001).

Recommended by the following AKC Parent Clubs: Newfoundland

Cystinuria Type 3 (Bulldog Risk Factor, Variants 1 & 2)

Cystinuria is a kidney disease in dogs that leads to the formation of cystine crystals and stones in the urine. Multiple genetic variants have been identified that are associated with cystinuria, and the type 3 form is androgen-dependent. These 2 specific genetic variants investigate SNPs in the SLC3A1 gene.
- Cystinuria Type 3 (Bulldog Type Risk Factor, Variant 1) = c.A>G; g.chr10:46705989
- Cystinuria Type 3 (Bulldog Type Risk Factor, Variant 2) = c.A>G; g.chr10:46735617

Cystinuria Type 3 (Bulldog Risk Factor, Variant 3)

Cystinuria is a kidney disease in dogs that leads to the formation of cystine crystals and stones in the urine. Multiple genetic variants have been identified that are associated with cystinuria, and the type 3 form is androgen-dependent. This specific genetic variant investigates a SNP in the SLC7A9 gene (c.G>A; g.chr1:119209134).

Dandy-Walker-Like Malformation

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

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

Deafness and Vestibular Dysfunction (Doberman Pinscher Type), Variant 2

This genetic variant is associated with inherited, bilateral deafness and vestibular dysfunction.

Degenerative Myelopathy (DM)

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.
- Degenerative Myelopathy (Bernese Mountain Dog Variant)
- Degenerative Myelopathy (Common Variant)
- Degenerative Myelopathy Modifier (Pembroke Welsh Corgi Type)

Recommended by the following AKC Parent Clubs: Bergamasco, Bernese Mountain Dog, Borzoi, Boxer, Cardigan Welsh Corgi, Chesapeake Bay Retriever, Finnish Lapphund, Puli, Pumi, Saint Bernard

Optional for the following AKC Parent Clubs: Chinook, Coton de Tulear, Komondor, Toy Fox Terrier

Dental Hypomineralization

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

Diffuse Cystic Renal Dysplasia & Hepatic Fibrosis

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

Dilated Cardiomyopathy (Doberman Pinscher Type Risk Factor, Variant 1) (DCM)

Dilated cardiomyopathy is a heart disease in dogs that leads to an enlarged heart with a weak muscle. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a deletion in the PDK4 gene and is associated with disease in Doberman Pinschers.

Dilated Cardiomyopathy (Doberman Pinscher Type Risk Factor, Variant 2) (DCM)

Dilated cardiomyopathy is a heart disease in dogs that leads to an enlarged heart with a weak muscle. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a SNP in the TTN gene.

Dilated Cardiomyopathy (Schnauzer Type) (DCM)

Dilated cardiomyopathy is a heart disease in dogs that leads to an enlarged heart with a weak muscle. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a deletion in the RBM20 gene.

Recommended by the following AKC Parent Clubs: Standard Schnauzer

Dry Eye Curly Coat Syndrome (CKSID)

Dry eye curly coat syndrome is an inherited disease that causes dry eye, dry flaky skin, and abnormal feet.
Optional for the following AKC Parent Clubs: Cavalier King Charles Spaniel

Dystrophic Epidermolysis Bullosa (Basset Hound Type) (DEB)

Dystrophic Epidermolysis Bullosa is an inherited skin disorder that manifests as blisters on the paw pads, ears, and muzzle. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a deletion involving the COL7A1 gene and was identified in a litter of Basset hounds.

Dystrophic Epidermolysis Bullosa (Golden Retriever Type) (DEB)

Dystrophic Epidermolysis Bullosa is an inherited skin disorder that manifests as blisters on the paw pads, ears, and muzzle. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a SNP involving the COL7A1 gene and was identified in Golden Retrievers.

Early-Onset Adult Deafness (Rhodesian Ridgeback Type)

With this inherited disease, affected dogs develop progressive hearing loss at a young age.

Early Retinal Degeneration (ERD)

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

Early ‑Onset Epilepsy (Parson Russell Terrier Type)

Epilepsy is an inherited neurologic disease that manifests as seizures. With this early-onset form, seizures develop during puppyhood.

Ectodermal Dysplasia (Chesapeake Bay Retriever Type) (ED)

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 PKP1 gene and was identified in Chesapeake Bay Retrievers.

Ectodermal Dysplasia, X-Linked (Dachshund Type) (XLHED)

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 deletion involving the EDA gene and was identified in Dachshunds.

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

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.

Ehlers-Danlos Syndrome (Doberman Pinscher Type)

Ehlers-Danlos Syndrome is an inherited disorder affecting connective tissue. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a SNP involving the ADAMTS2 gene and was identified in Doberman Pinschers.

Ehlers-Danlos Syndrome (Labrador Retriever Type), Variant 1

Ehlers-Danlos Syndrome is an inherited disorder affecting connective tissue. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a deletion involving the COL5A1 gene and was identified in Labrador Retrievers.

Ehlers-Danlos Syndrome (Labrador Retriever Type), Variant 2

Ehlers-Danlos Syndrome is an inherited disorder affecting connective tissue. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a SNP involving the COL5A1 gene and was identified in Labrador Retrievers.

Ehlers-Danlos Syndrome (Poodle Type, Variants 1 and 2) (EDS)

Ehlers-Danlos Syndrome is an inherited disorder affecting connective tissue. Multiple genetic variants have been identified that are associated with different manifestations of this disease. With this test, two specific genetic variants investigate two SNPs involving the TNXB gene and was identified in Poodles.
- Ehlers-Danlos Syndrome (Variant 1) = c.G>A; g.chr12:1499124
- Ehlers-Danlos Syndrome (Variant 2) = c.G>A; g.chr12:1490385

Elliptocytosis

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

Epidermolytic Hyperkeratosis

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

Episodic Falling Syndrome (EDFS)

This genetic variant results in an inherited condition, characterized by muscle spasticity.
Optional for the following AKC Parent Clubs: Cavalier King Charles Spaniel

Exercise-Induced Collapse (EIC)

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

Recommended by the following AKC Parent Clubs: Boykin Spaniel, Chesapeake Bay Retriever, Curly-Coated Retriever, Labrador Retriever, Old English Sheepdog

Exfoliative Cutaneous Lupus Erythematosus (ECLE)

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

Factor XI Deficiency

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.

- Factor XI Deficiency = c.90 bp insertion; g.chr16:44477343-44477344

- Factor XI Deficiency = c.10 bp duplication (dup GCACAAAGCT); g.chr16:44477344-44477353

Familial Nephropathy (Cocker Spaniel Type) (FN, HN)

This genetic variant is associated with an inherited form of kidney disease involving a SNP in the COL4A4 gene (c.A>T; g.chr25:39953906).

Familial Nephropathy (English Springer Spaniel Type) (FN, HN)

This genetic variant is associated with an inherited form of kidney disease involving a SNP in the COL4A4 gene (c.C>T; g.chr25:39893376).

Fucosidosis

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

Gallbladder Mucoceles

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

Glanzmann’s Thrombasthenia (Great Pyrenees Type) (GT)

Glanzmann’s Thrombasthenia is an inherited bleeding disorder affecting platelets. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a duplication involving the ITGA2B gene (c.14 bp duplication (dup GGTGCCACAGACAT); g.chr9:19057144-19057157).

Glanzmann’s Thrombasthenia (Otterhound Type) (GT)

Glanzmann’s Thrombasthenia is an inherited bleeding disorder affecting platelets. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a SNP involving the ITGA2B gene (c.G>C; g.chr9:19054488).

Recommended by the following AKC Parent Clubs: Otterhound

Glaucoma (Border Collie Type) (PCAD)

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 OLFML3 gene.

Globoid Cell Leukodystrophy (Irish Setter Type) (GLD)

This genetic variant is associated with an inherited neurologic, lysosomal storage disease in Irish Setters and Irish Red and White Setters. This test includes two specific genetic variants involving the GALC gene:
- Globoid Cell Leukodystrophy (Irish Setter Type) = c.78 bp insertion; g.chr8:59294611-59294612
- Globoid Cell Leukodystrophy (Irish Setter Type) = c.16 bp duplication (dup GATTTTAGCACTTTAA); g.chr8:59294612-59294627.

Globoid Cell Leukodystrophy (Terrier Type) (GLD)

This genetic variant is associated with an inherited neurologic, lysosomal storage disease in terriers. This specific genetic variant involves a SNP in the GALC gene (c.A>C; g.chr8:59311801).

Recommended by the following AKC Parent Clubs: Cairn Terrier

Glycogen Storage Disease Ia (GSD Ia, GSD1a)

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.

Glycogen Storage Disease IIIa (GSD IIIa)

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.

Recommended by the following AKC Parent Clubs: Curly-Coated Retriever

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

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)

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.

Recommended by the following AKC Parent Clubs: English Springer Spaniel

GM1 Gangliosidosis (Alaskan Husky Type)

GM 1 Gangliosidosis is an inherited neurologic, lysosomal storage disorder. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a duplication involving the GLB1 gene and was identified in Alaskan Huskies.

GM1 Gangliosidosis (Portuguese Water Dog Type)

GM 1 Gangliosidosis is an inherited neurologic, lysosomal storage 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 GLB1 gene and was identified in Portuguese Water Dogs.

Recommended by the following AKC Parent Clubs: Portuguese Water Dog

GM1 Gangliosidosis (Shiba Inu Type)

GM 1 Gangliosidosis is an inherited neurologic, lysosomal storage disorder. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a deletion involving the GLB1 gene and was identified in Shiba Inu.

GM2 Gangliosidosis (Japanese Chin Type)

GM 2 Gangliosidosis is an inherited neurologic, lysosomal storage 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 HEXA gene and was identified in Japanese Chin.

Recommended by the following AKC Parent Clubs: Japanese Chin

GM2 Gangliosidosis (Poodle Type)

GM 2 Gangliosidosis is an inherited neurologic, lysosomal storage disorder. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a deletion involving the HEXB gene and was identified in Poodles (c.1 bp deletion (del G); g.chr2:57225684).

GM2 Gangliosidosis (Shiba Inu Type)

GM 2 Gangliosidosis is an inherited neurologic, lysosomal storage disorder. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a deletion involving the HEXB gene and was identified in Shiba Inu (c.CCT/-; g.chr2:56494919-56494921).

Greyhound Polyneuropathy

This progressive, inherited, neuromuscular disease affects Greyhounds and leads to hind limb weakness, laryngeal problems, and other related clinical signs.

Recommended by the following AKC Parent Clubs: Greyhound

Hemophilia A (Boxer Type)

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 Boxers (c.C>G; g.chrX:122981181).

Hemophilia A (German Shepherd Dog, Type 1)

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)

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).

Hemophilia A (Rhodesian Ridgeback Type)

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 an insertion and duplication in the F8 gene and is associated with disease in Rhodesian Ridgebacks (c.-/221bp ins + 17 bp flanking dup(GGTGTCTTTCCTTTTAA); g.chrX:124073876-124073877).

Hemophilia B (Cairn Terrier Type)

Hemophilia B is an inherited bleeding disorder caused by a deficiency in coagulation factor IX. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a SNP in the F9 gene and is associated with disease in Cairn Terriers (c.G>A; g.chrX:109532018).

Hemophilia B (Lhasa Apso Type)

Hemophilia B is an inherited bleeding disorder caused by a deficiency in coagulation factor IX. Multiple genetic variants have been identified that are associated with this disease. This test includes two specific genetic variants involving the F9 gene and is associated with disease in Lhasa Apso.
- Hemophilia B (Lhasa Apso Type) = c.5 bp deletion (del GCACC); g.chrX:109521356-109521360
- Hemophilia B (Lhasa Apso Type) = c.C>T; g.chrX:109521361

Hemophilia B (Rhodesian Ridgeback Type)

Hemophilia B is an inherited bleeding disorder caused by a deficiency in coagulation factor IX. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a SNP in the F9 gene and is associated with disease in Rhodesian Ridgebacks (c.G>A; g.chrX:109530868).

Hereditary Ataxia (Australian Shepherd Type)

This genetic variant is associated with an inherited, progressive, neurological disease that results in uncoordinated movement (ataxia), involving the PNPLA8 gene.

Hereditary Cataracts (HC, JC)

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).

Recommended by the following AKC Parent Clubs: Staffordshire Bull Terrier

Optional for the following AKC Parent Clubs: Boston Terrier

Hereditary Cataracts (Australian Shepherd Type) (HC, HSF4, JC)

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 a deletion involving the HSF4 gene (c.1 bp deletion (del C); g.chr5:82198105).
Optional for the following AKC Parent Clubs: Australian Shepherd

Hereditary Cataracts (Wirehaired Pointing Griffon Type)

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 a deletion involving the FYCO1 gene in Wirehaired Pointing Griffon (c.G/-; g.chr20:42952995).

Hereditary Footpad Hyperkeratosis (Irish Terrier & Kromfohrländer Type)

Hereditary Footpad Hyperkeratosis 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 FAM83G gene in Irish Terriers and Kromfohrländer (c.G>C; g.chr5:41055619).

Hereditary Footpad Hyperkeratosis (Rottweiler Type)

Hereditary Footpad Hyperkeratosis 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 deletion involving the DSG1 gene in Rottweilers (c.AGCCC/-; g.chr7:58140382-58140386).

Hereditary Nasal Parakeratosis (Greyhound Type) (HNPK)

Hereditary Nasal Parakeratosis is an inherited skin disorder of the nose. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a deletion involving the SUV39H2 gene in Greyhounds (c.4 bp deletion (del AAGT); g.chr2:21731812-21731815).

Hereditary Nasal Parakeratosis (Labrador Retriever Type) (HNPK)

Hereditary Nasal Parakeratosis is an inherited skin disorder of the nose. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a SNP involving the SUV39H2 gene in Labrador Retrievers (c.T>G; g.chr2:21731842).

Hereditary Nephritis (Samoyed Type) (AS, HN, XLHN)

This genetic variant is associated with a form of hereditary kidney disease in Samoyed.

Hyperuricosuria (HUU)

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.

Recommended by the following AKC Parent Clubs: Weimaraner

Optional for the following AKC Parent Clubs: Coton de Tulear

Hypomyelination (Weimaraner Type) (HYM, HS)

Dogs with this inherited neurologic disease develop tremors within their first weeks of age.

Recommended by the following AKC Parent Clubs: Weimaraner

Ichthyosis (American Bulldog Type)

Ichthyosis is an inherited skin disorder characterized by scales on the skin. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a deletion involving the NIPAL4 gene in American Bulldogs (c.1 bp deletion (del C); g.chr4:52737279).

Ichthyosis (Golden Retriever Type 1)

Ichthyosis is an inherited skin disorder characterized by scales on the skin. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates an insertion involving the PNPLA1 gene in Golden Retrievers (c.8 bp insertion (ins TACTACTA); g.chr12:5417388-5417390).

Ichthyosis (Golden Retriever Type 2)

Ichthyosis is an inherited skin disorder characterized by scales on the skin. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a deletion involving the ABHD5 gene in Golden Retrievers (c.14 bp deletion (GACTTCAACCAGAA); g.chr23:2274932-2274945).

Ichthyosis (Great Dane Type)

Ichthyosis is an inherited skin disorder characterized by scales on the skin. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates a SNP involving the SLC27A4 gene in Great Danes (c.14 bp deletion (GACTTCAACCAGAA); g.chr23:2274932-2274945).

Ichthyosis (Jack Russell Terrier Type)

Ichthyosis is an inherited skin disorder characterized by scales on the skin. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This specific genetic variant investigates an insertion involving the TGM1 gene in Jack Russell Terriers, Parson Russell Terriers, and Russell Terriers. (c.-/1.9kb + 14 bp flanking dup(AAAGATCCAAGGAG); g.chr8:4361622-4361623).

Inflammatory Myopathy (Shepherd Type)

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

Inherited Myopathy of Great Danes (IMGD)

This genetic variant is associated with an inherited, degenerative muscle disease that often progresses to the inability to walk.

Intestinal Cobalamin Malabsorption (Beagle Type) (I-GS)

Intestinal Cobalamin Malabsorption can occur for both inherited and non-inherited reasons. With this inherited form, dogs are unable to make a protein responsible for absorbing cobalamin. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a deletion involving the CUBN gene in Beagles (c.1 bp deletion (del C); g.chr2:19796293).

Intestinal Cobalamin Malabsorption (Border Collie Type)

Intestinal Cobalamin Malabsorption can occur for both inherited and non-inherited reasons. With this inherited form, dogs are unable to make a protein responsible for absorbing cobalamin. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a deletion involving the CUBN gene in Border Collies and related breeds (c.1 bp deletion (del C); g.chr2:19974334).

Intestinal Cobalamin Malabsorption (Giant Schnauzer Type)

Intestinal Cobalamin Malabsorption can occur for both inherited and non-inherited reasons. With this inherited form, dogs are unable to make a protein responsible for absorbing cobalamin. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a deletion involving the AMN gene in Giant Schnauzers (c.CGGGCTGCTGCTGCTGCTGCTGGCGCTGGCGGC/-; g.chr8:71212935-71212967).

Intestinal Lipid Malabsorption

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

Junctional Epidermolysis Bullosa (Australian Shepherd Type)

Dogs with this inherited skin disorder develop fragile skin that is prone to ulceration.

Juvenile Laryngeal Paralysis & Polyneuropathy (Black Russian Terrier Type) (JLPP, POANV)

This progressive, inherited, neuromuscular disease leads to hind limb weakness, laryngeal problems, and other related clinical signs in Black Russian Terriers and Rottweilers.

Recommended by the following AKC Parent Clubs: Black Russian Terrier, Rottweiler

Juvenile Myoclonic Epilepsy (Rhodesian Ridgeback Type)

Dogs with this inherited neurological disease develop uncontrolled muscle movements.

L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type) (L-2-HGA)

L-2- hydroxyglutaric aciduria (L-2-HGA) is an inherited neurometabolic disorder that causes wobbly gait, tremors, seizures, and other neurologic signs. Multiple genetic variants have been identified that are associated with this disease. This test investigates two specific genetic variants involving the L2HGDH gene in Staffordshire Bull Terriers.
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type) = c.C>T; g.chr8:26723470
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type) = c.T>C; g.chr8:26723472

Recommended by the following AKC Parent Clubs: Staffordshire Bull Terrier

L-2-Hydroxyglutaric Aciduria (Yorkshire Terrier Type) (L-2-HGA)

L-2- hydroxyglutaric aciduria (L-2-HGA) is an inherited neurometabolic disorder that causes wobbly gait, tremors, seizures, and other neurologic signs. Multiple genetic variants have been identified that are associated with this disease. This test investigates a SNP involving the L2HGDH gene in Yorkshire and Biewer Terriers (c.T/C; g.chr8:26984190).

Lagotto Storage Disorder (LSD)

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

Recommended by the following AKC Parent Clubs: Lagotto Romagnolo

Laryngeal Paralysis and Polyneuropathy (Leonberger Type 3)

This genetic variant involving the CNTNAP1 gene is associated with progressive, inherited, neuromuscular disease in Leonbergers, Saint Bernards, and Laborador Retrievers. Affected dogs develop hind limb weakness, laryngeal problems, and other related clinical signs.

Recommended by the following AKC Parent Clubs: Leonberger

Late Onset Ataxia (LOA, SCA)

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)

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

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

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).

Recommended by the following AKC Parent Clubs: Irish Red and White Setter

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

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)

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

Limb-Girdle Muscular Dystrophy (Dachshund Type)

Limb-girdle Muscular Dystrophy (Dachshund Type) is an inherited neuromuscular disease. Multiple genetic variants have been identified that are associated with muscular dystrophy. This specific genetic test investigates an insertion involving the SGCA gene.

Lundehund Syndrome (LS)

This severe gastrointestinal disease affects Norwegian Lundehund.

Macular Corneal Dystrophy (Labrador Retriever Type) (MCD)

This genetic variant is associated with an inherited, progressive eye disease in Labrador Retrievers.

Mammary Tumors (English Springer Spaniel Type Risk Factor)

Mammary tumors are a type of cancer that affects female dogs, and this genetic variant is associated with an increased risk of developing mammary tumors in English Springer Spaniels.

May-Hegglin Anomaly (MHA)

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

Microphthalmia (Soft Coated Wheaten Terrier Type)

Microphthalmia is an inherited eye disease that causes small, malformed eyes. Multiple genetic variants have been identified that are associated with this disease. This test investigates a deletion involving the RBP4 gene in Soft Coated Wheaten Terriers (c.TTC/-; g.chr28:8009401-8009403).

Mucopolysaccharidosis I (Boston Terrier Type) (MPS I)

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 an insertion involving the IDUA gene and was identified in Boston Terriers (c.-/GGGGGCCG; g.chr3:92143164).

Mucopolysaccharidosis I (Plott Hount Type) (MPS I)

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 IDUA gene and was identified in Plott Hounds (c.G>A; g.chr3:91534420).

Mucopolysaccharidosis IIIA (Dachshund Type) (MPS IIIA)

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 deletion involving the SGSH gene and was identified in Dachshunds (c.3 bp deletion (del CCA); g.chr9:1544373-1544375).

Mucopolysaccharidosis IIIA (New Zealand Huntaway Type) (MPS IIIA)

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 an insertion involving the SGSH gene and was identified in New Zealand Huntaways (c.1 bp insertion (ins A); g.chr9:1544322-1544323).

Mucopolysaccharidosis IIIB (Schipperke Type) (MPS IIIB)

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 an insertion involving the NAGLU gene and was identified in Schipperkes (c.-/40-70bpT+GGAAGGCATTC; g.chr9:20281734-20281735).

Mucopolysaccharidosis VI (Miniature Schnauzer Type) (MPS VI)

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 deletion involving the ARSB gene and was identified in Miniature Schnauzers (c.GGCGGCGGGGCCGCGGGCCGCGAAGGATGTGCGGGCGCGGGGCGGCCAGCCTGCCC/-; g.chr3:28031524-28031579).

Mucopolysaccharidosis VII (Brazilian Terrier Type) (MPS VII)

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 Brazilian Terriers (c.G/A; g.chr6:654444).

Mucopolysaccharidosis VII (Shepherd Type) (MPS VII)

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)

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

Recommended by the following AKC Parent Clubs: Chinook, Collie, Miniature American Shepherd

Optional for the following AKC Parent Clubs: Australian Shepherd, Old English Sheepdog

Multifocal Retinopathy 1 (CMR1)

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)

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).
Optional for the following AKC Parent Clubs: Coton de Tulear

Multifocal Retinopathy 3 (CMR3)

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).

Muscular Dystrophy (Golden Retriever Type) (DMD, GRMD)

With this inherited muscle disorder in Golden Retrievers, affected dogs are unable to produce enough of a protein that is important for muscle function.

Musladin-Lueke Syndrome (MLS)

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

Recommended by the following AKC Parent Clubs: Beagle

Myostatin Deficiency (Whippet & Silken Windsprite)

This genetic variant is associated with increased muscling in whippets.

Myotonia Congenita (Australian Cattle Dog Type)

Myotonia Congenita is an inherited muscular disease that leads to contracted muscles. Multiple genetic variants have been identified that are associated with this disease. This test investigates an insertion involving the CLCN1 gene in Australian Cattle Dogs (c.1 bp insertion (ins A); g.chr16:6344730-6344731).

Myotonia Congenita (Labrador Retriever Type)

Myotonia Congenita is an inherited muscular disease that leads to contracted muscles. Multiple genetic variants have been identified that are associated with this disease. This test investigates a SNP involving the CLCN1 gene in Labrador Retrievers (c.T/A; g.chr16:6077509).

Myotonia Congenita (Schnauzer Type)

Myotonia Congenita is an inherited muscular disease that leads to contracted muscles. Multiple genetic variants have been identified that are associated with this disease. This test investigates a SNP involving the CLCN1 gene in Schnauzers (c.C>T; g.chr16:6366383).

Myotubular Myopathy 1 (Boykin Spaniel Type) (MTM1, XLMTM)

Myotubular Myopathy 1 is an inherited muscular disease that leads to weakened muscles. Multiple genetic variants have been identified that are associated with this disease. This test investigates a SNP involving the MTM1 gene in Boykin Spaniels (c.C/T; g.chrX:120209973).

Myotubular Myopathy 1 (Labrador Retriever Type) (MTM1, XLMTM)

Myotubular Myopathy 1 is an inherited muscular disease that leads to weakened muscles. Multiple genetic variants have been identified that are associated with this disease. This test investigates a SNP involving the MTM1 gene in Labrador Retrievers (c.C>A; g.chrX:118885117).

Myotubular Myopathy 1 (Rottweiler Type) (MTM1, XLMTM)

Myotubular Myopathy 1 is an inherited muscular disease that leads to weakened muscles. Multiple genetic variants have been identified that are associated with this disease. This test investigates a SNP involving the MTM1 gene in Rottweilers (c.A>C; g.chrX:118901282).

Narcolepsy (Dachshund Type)

Narcolepsy is an inherited sleep disorder. Multiple genetic variants have been identified that are associated with this disease. This test investigates a SNP involving the HCRTR2 gene in Dachshunds (c.G>A; g.chr12:22517939).

Narcolepsy (Doberman Pinscher Type)

Narcolepsy is an inherited sleep disorder. Multiple genetic variants have been identified that are associated with this disease. This test investigates an insertion involving the HCRTR2 gene in Doberman Pinschers (c.226 bp insertion; g.chr12:22603767-22603768).

Narcolepsy (Labrador Retriever Type)

Narcolepsy is an inherited sleep disorder. Multiple genetic variants have been identified that are associated with this disease. This test investigates a SNP involving the HCRTR2 gene in Labrador Retrievers (G>A; g.chr12:22620881).

Neonatal Ataxia

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)

This inherited neurologic disease is associated with uncoordinated movement in Beagles.
Optional for the following AKC Parent Clubs: Beagle

Neonatal Encephalopathy with Seizures (NEWS)

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

Neuroaxonal Dystrophy (Giant Schnauzer Type) (NAD)

Neuroaxonal Dystrophy is an inherited neurologic disorder. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This genetic variant leads to respiratory failure at birth and involves a deletion in the MFN2 gene in Giant Schnauzers (c.TCC/-; g.chr2:83765723-83765725).

Neuroaxonal Dystrophy (Papillon Type) (NAD)

Neuroaxonal Dystrophy is an inherited neurologic disorder. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This test investigates a SNP involving the PLA2G6 gene in Papillons (c.G/A; g.chr10:27545305).

Neuroaxonal Dystrophy (Rottweiler Type) (NAD)

Neuroaxonal Dystrophy is an inherited neurologic disorder. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This genetic variant investigates a SNP involving the VPS11 gene in Rottweilers (c.A>G; g.chr5:14777774).

Neuroaxonal Dystrophy (Spanish Water Dog Type) (NAD)

Neuroaxonal Dystrophy is an inherited neurologic disorder. Multiple genetic variants have been identified that are associated with different manifestations of this disease. This genetic variant investigates a SNP involving the TECPR2 gene in Spanish Water Dogs (c.C>T; g.chr8:70433320).

Neuronal Ceroid Lipofuscinosis (Tibetan Terrier Type) (NCL)

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 a SNP involving the ATP13A2 gene in Tibetan Terriers (G>A; g.chr12:22620881).

Recommended by the following AKC Parent Clubs: Tibetan Terrier

Neuronal Ceroid Lipofuscinosis 1 (NCL, NCL1)

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 1 (Cane Corso Type) (NCL, NCL1)

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 a SNP involving the PPT1 gene identified in a Cane Corso (c.G>A; g.chr15:2860424).

Neuronal Ceroid Lipofuscinosis 2 (NCL, NCL2)

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)

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).

Recommended by the following AKC Parent Clubs: American Staffordshire Terrier

Neuronal Ceroid Lipofuscinosis 5 (Golden Retriever Type) (NCL, NCL5)

Neuronal Ceroid Lipofuscinosis 5 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 CLN5 gene identified in Golden Retrievers (c.2 bp deletion (del AG); g.chr22:30574949-30574950).

Recommended by the following AKC Parent Clubs: Golden Retriever

Neuronal Ceroid Lipofuscinosis 5 (Herding Dog Type) (NCL, NCL5)

Neuronal Ceroid Lipofuscinosis 5 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 CLN5 gene identified in Border Collies (c.C>T; g.chr22:30574637).

Neuronal Ceroid Lipofuscinosis 6 (NCL, NCL6)

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)

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).

Neuronal Ceroid Lipofuscinosis 8 (Australian Shepherd Type) (NCL, NCL8)

Neuronal Ceroid Lipofuscinosis 8 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 CLN8 gene in Australian Shepherds (c.G>A; g.chr37:30883950).

Neuronal Ceroid Lipofuscinosis 8 (Setter Type) (NCL, NCL8)

Neuronal Ceroid Lipofuscinosis 8 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 CLN8 gene identified in English Setters (c.T>C; g.chr37:30874779).

Neuronal Ceroid Lipofuscinosis 10 (NCL, NCL10)

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)

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).

Nonsyndromic Hearing Loss (Rottweiler Type)

This genetic variant is associated with inherited, early-onset hearing loss.

Oculocutaneous Albinism (Doberman Pinscher Type)(OCA)

This genetic variant is associated with albinism in Doberman Pinschers. Multiple genetic variants have been identified that are associated with albinism. This test investigates a deletion involving the SLC45A2 gene (c.4081 bp deletion; g.chr4:73867275-73871357).

Oculocutaneous Albinism (Small Breed Type) (OCA)

This genetic variant is associated with albinism in some small breeds. Multiple genetic variants have been identified that are associated with albinism. This test investigates a SNP involving the SLC45A2 gene (c.G>A; g.chr4:73867311).

Osteochondrodysplasia

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

Osteogenesis Imperfecta (Beagle Type) (OI)

Osteogenesis Imperfecta is an inherited collagen disorder that results in thin bones and fractures. Multiple genetic variants have been identified that are associated with OI. This test investigates an insertion involving the COL1A2 gene identified in Beagles (c.9 bp insertion (ins TGTCATTGG); g.chr14:19918265-19918268).

Osteogenesis Imperfecta (Dachshund Type) (OI)

Osteogenesis Imperfecta is an inherited collagen disorder that results in thin bones and fractures. Multiple genetic variants have been identified that are associated with OI. This test investigates a SNP involving the SERPINH1 gene identified in Dachshunds (c.T>C; g.chr21:23033735).

Osteogenesis Imperfecta (Golden Retriever Type) (OI)

Osteogenesis Imperfecta is an inherited collagen disorder that results in thin bones and fractures. Multiple genetic variants have been identified that are associated with OI. This test investigates a SNP involving the COL1A2 gene identified in Golden Retrievers (c.G>C; g.chr9:26193593).

P2RY12 Receptor Platelet Disorder

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

Pancreatitis (Miniature Schnauzer Type Risk Factor)

Pancreatitis is inflammation of the pancreas, the organ that produces enzymes to help digest food. Pancreatitis can have multiple causes that typically are not inherited. This genetic test investigates three variants that are associated with an increased risk of pancreatitis in Miniature Schnauzers. Use of these tests in breeding programs is still under investigation, as inheritance is complex.

Pembroke Welsh Corgi Duchenne Muscular Dystrophy (DMD)

Duchenne Muscular Dystrophy is an inherited neuromuscular disease. Multiple genetic variants have been identified that are associated with muscular dystrophy. This specific genetic test investigates an insertion involving the DMD gene in Pembroke Welsh Corgis.

Persistent Müllerian Duct Syndrome (PMDS)

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)

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

Polyneuropathy (Leonberger & Saint Bernard Type) (PN)

This genetic variant involving the ARHGEF10 gene is associated with progressive, inherited, neuromuscular disease in Leonbergers, Saint Bernards. Affected dogs develop hind limb weakness, laryngeal problems, and other related clinical signs.

Recommended by the following AKC Parent Clubs: Leonberger

Polyneuropathy (Leonberger Type 2) (PN, LPN2)

This genetic variant involving the GJA9 gene is associated with progressive, inherited, neuromuscular disease in Leonbergers. Affected dogs develop hind limb weakness, laryngeal problems, and other related clinical signs.

Recommended by the following AKC Parent Clubs: Leonberger

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

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)

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).

Recommended by the following AKC Parent Clubs: Finnish Lapphund

Prekallikrein Deficiency

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

Primary Ciliary Dyskinesia (Alaskan Malamute Type) (PCD)

Primary Ciliary Dyskinesia which is an inherited disease affecting cilia, the microscopic, hair-like structures on the surface of cells. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a deletion involving the NME5 gene in Alaskan Malamutes.

Recommended by the following AKC Parent Clubs: Alaskan Malamute

Primary Ciliary Dyskinesia (Old English Sheepdog Type) (PCD)

Primary Ciliary Dyskinesia which is an inherited disease affecting cilia, the microscopic, hair-like structures on the surface of cells. Multiple genetic variants have been identified that are associated with this disease. This specific genetic variant investigates a SNP involving the CCDC39 gene in Old English Sheepdogs.
Optional for the following AKC Parent Clubs: Old English Sheepdog

Primary Hyperoxaluria (PH1)

This genetic variant is associated with a rare metabolic disorder that can cause kidney stone formation.
Optional for the following AKC Parent Clubs: Coton de Tulear

Primary Lens Luxation (PLL)

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)

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).

Primary Open Angle Glaucoma (Basset Fauve de Bretagne Type) (POAG)

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 ADAMS17 gene and was identified in Basset Fauve de Bretagne (c.G>A; g.chr3:40808345).

Primary Open Angle Glaucoma (Basset Hound Type) (POAG)

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 deletion in the ADAMS17 gene and was identified in Basset Hounds and Basset Fauve de Bretagne (c.19 bp deletion; g.chr3:40614852-40614870).

Recommended by the following AKC Parent Clubs: Basset Hound

Primary Open Angle Glaucoma (Norwegian Elkhound Type) (POAG)

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 and was identified in Norwegian Elkhounds (c.G>A; g.chr20:53101896).

Primary Open Angle Glaucoma & Primary Lens Luxation (Shar Pei Type) (POAG/PLL)

Glaucoma is an eye disease resulting in increased pressure in the eye. Both inherited and noninherited forms of glaucoma exist, and this genetic variant is also associated with an increased risk of primary lens luxation. This test investigates a deletion in the ADAMS17 gene and was identified in Chinese Shar-pei (c.6 bp deletion (del CGTGGT); g.chr3:40935387-40935393).

Progressive Retinal Atrophy (Basenji Type) (PRA)

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 SAG gene in Basenji (c.T>C; g.chr25:44843440).

Recommended by the following AKC Parent Clubs: Basenji

Progressive Retinal Atrophy (Bullmastiff/Mastiff Type)

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 RHO gene in Basenjis (c.C>G; g.chr20:5637394).

Progressive Retinal Atrophy (Giant Schnauzer Type) (PRA, PRA5)

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 NECAP1 gene in Giant Schnauzers (c.G>A; g.chr27:37468611).

Progressive Retinal Atrophy (Irish Setter Type) (PRA-rcd1)

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 PDE6B gene in Irish Setters (c.G>A; g.chr3:91747714).

Recommended by the following AKC Parent Clubs: Irish Setter, Irish Red and White Setter

Progressive Retinal Atrophy (Shetland Sheepdog Type) (CNGA1-PRA, PRA)

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 CNGA1 gene in Shetland Sheepdogs (c.4 bp deletion (del AACT); g.chr13:43831897-43831900).

Progressive Retinal Atrophy (Sloughi Type Type) (PRA-rcd1a)

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 PDE6B gene in Sloughis (c.8 bp insertion (ins TGAAGTCC); g.chr3:91747685-91747686).

Recommended by the following AKC Parent Clubs: Sloughi

Progressive Retinal Atrophy, Cone-Rod Dystrophy (Dachshund Type) (PRA-crd)

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 NPHP4 gene in Dachshunds (c.180 bp deletion; g.chr5:59912990-59913168).

Progressive Retinal Atrophy, Cone-Rod Dystrophy 1 (American Staffordshire Terrier Type) (PRA-crd1)

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 PDE6B gene in American Staffordshire Terriers (c.3 bp deletion (del GTT); g.chr3:91747728-91747730).

Progressive Retinal Atrophy, Cone-Rod Dystrophy 2 (American Staffordshire Terrier Type) (PRA-crd2)

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 IQCB1 gene in American Staffordshire Terriers (c.1 bp insertion (ins C); g.chr33:25078909-25078910).

Progressive Retinal Atrophy, Cone-Rod Dystrophy 3 (Glen of Imaal Terrier Type) (PRA-crd3)

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 ADAM9 gene in Glen of Imaal Terriers (c.40 kb deletion; g.chr16:27171373-27212144).

Recommended by the following AKC Parent Clubs: Glen of Imaal Terrier

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

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).

Recommended by the following AKC Parent Clubs: Curly-Coated Retriever, English Springer Spaniel

Progressive Retinal Atrophy, Early Onset (Spanish Water Dog Type)

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 PDE6B gene in Spanish Water Dogs (c.6 bp deletion (CCAGAA); g.chr3:92358235-92358240).

Progressive Retinal Atrophy, Early-Onset (Portuguese Water Dog Type)

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 CCDC66 gene in PortugueseWater Dogs (c.-/T; g.chr20:33966929-33966930).

Recommended by the following AKC Parent Clubs: Portuguese Water Dog

Progressive Retinal Atrophy, Generalized (Schapendoes Type)

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 CCDC66 gene in Schapendoes (c.1 bp insertion (ins A); g.chr20:33745445-33745446).

Progressive Retinal Atrophy, Golden Retriever 1 (GR-PRA, GR1-PRA)

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 SLC4A3 gene in Golden Retrievers (c.1 bp insertion (ins C); g.chr37:26145752-26145753).

Progressive Retinal Atrophy, Golden Retriever 2 (GR-PRA2, GR2-PRA)

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 TTC8 gene in Golden Retrievers (c.1 bp deletion (del A); g.chr8:60090186).

Progressive Retinal Atrophy, Late-Onset (Lapponian Herder Type)

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 IFT122 gene in Lapponian Herders (c.C/T; g.chr20:5722348).

Progressive Retinal Atrophy, PRA1 (Papillon Type) (PRA, PRA1)

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 tests investigates 2 genetic variants involving the CNGB1 gene in Papillons (c.1 bp deletion (del A); g.chr2:58622673, c.6 bp insertion (ins AGCTAC); g.chr2:58622675-58622676).
Optional for the following AKC Parent Clubs: Italian Greyhound, Papillon

Progressive Retinal Atrophy, PRA3 (Tibetan Terrier & Spaniel Type) (PRA3)

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 tests investigates 2 genetic variants involving the FAM16A gene in Tibetan Terriers and Tibetan Spaniels (c.238 bp insertion; g.chr10:61822372-61822373, c.14 bp duplication (dup TAAAATCAAATAAA); g.chr10:61822359-61822372).

Recommended by the following AKC Parent Clubs: Tibetan Terrier

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

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).

Recommended by the following AKC Parent Clubs: Chinese Crested, Cardigan Welsh Corgi

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

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).

Recommended by the following AKC Parent Clubs: Gordon Setter, Tibetan Terrier

Progressive Retinal Atrophy, Syndromic Retinal Degeneration (Shetland Sheepdog Type)

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 BBS2 gene in Shetland Sheepdogs (c.G/C; g.chr2:58970967).

Progressive Retinal Atrophy, X-Linked 1 (Husky Type) (XLPRA1)

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.5 bp deletion (del GAGAA); g.chrX:33056371-33105037).

Recommended by the following AKC Parent Clubs: Samoyed

Progressive Retinal Atrophy, X-linked 2 (XLPRA2)

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

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.

Recommended by the following AKC Parent Clubs: Soft Coated Wheaten Terrier

Pyruvate Dehydrogenase Deficiency (PDP1)

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

Recommended by the following AKC Parent Clubs: Clumber Spaniel

Pyruvate Kinase Deficiency (Basenji Type) (PKD)

Pyruvate Kinase Deficiency (PKD) is an inherited metabolic disorder characterized by anemia and other clinical findings. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates a deletion involving the PKLR gene in Basenjis (c.1 bp deletion (del C); g.chr7:42267826).

Pyruvate Kinase Deficiency (Beagle Type) (PKD)

Pyruvate Kinase Deficiency (PKD) is an inherited metabolic disorder characterized by anemia and other clinical findings. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates a SNP involving the PKLR gene in Beagles (c.G>A; g.chr7:42268927).

Pyruvate Kinase Deficiency (Labrador Retriever Type) (PKD)

Pyruvate Kinase Deficiency (PKD) is an inherited metabolic disorder characterized by anemia and other clinical findings. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates a SNP involving the PKLR gene in Labrador Retrievers (c.C>T; g.chr7:42268632).

Pyruvate Kinase Deficiency (Pug Type Type) (PKD)

Pyruvate Kinase Deficiency (PKD) is an inherited metabolic disorder characterized by anemia and other clinical findings. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates a SNP involving the PKLR gene in Pugs (c.T>C; g.chr7:42268681).

Pyruvate Kinase Deficiency (Terrier Type) (PKD)

Pyruvate Kinase Deficiency (PKD) is an inherited metabolic disorder characterized by anemia and other clinical findings. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates an insertion involving the PKLR gene in Cairn and West Highland White Terriers (c.6 bp insertion (ins AAGACC or ACCAAG); g.chr7:42269743-42269761).

Recurrent Inflammatory Pulmonary Disease (IPD)

This genetic variant is associated with an inherited respiratory disease that can cause coughing, nasal discharge, and fever.

Renal Cystadenocarcinoma & Nodular Dermatofibrosis

This genetic variant is associated with an inherited form of kidney, dermal, and uterine cancer in dogs.

Retinal Dysplasia/Oculoskeletal Dysplasia 1 (OSD1, DRD1, RD/OSD1)

This genetic variant is associated with Retinal Dysplasia/Oculoskeletal Dysplasia 1, an inherited disorder affecting collagen. Affected dogs develop dwarfism and eye abnormalities.

Recommended by the following AKC Parent Clubs: Samoyed

Retinal Dysplasia/Oculoskeletal Dysplasia 2 (OSD2, DRD2, RD/OSD2)

This genetic variant is associated with Retinal Dysplasia/Oculoskeletal Dysplasia 2, an inherited disorder affecting collagen. Affected dogs develop dwarfism and eye abnormalities.

Sensory Neuropathy (Border Collie Type) (SN)

This genetic variant is associated with a progressive sensory neuropathy that leads to ataxia (uncoordinated movements), muscle atrophy, and eventually urinary incontinence and poor quality of life.

Severe Combined Immunodeficiency Disease (Terrier Type) (SCID)

Severe Combined Immunodeficiency Disease (SCID) is an inherited immune disorder characterized by predispositions to severe infections. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates a SNP involving the PRKDC gene in Parson and Russell Terriers (c.G>T; g.chr29:49588).

Severe Combined Immunodeficiency Disease (Wetterhound Type) (SCID)

Severe Combined Immunodeficiency Disease (SCID) is an inherited immune disorder characterized by predispositions to severe infections. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates a SNP involving the RAG1 gene in Wetterhoun (c.G>T; g.chr18:31631772).

Severe Combined Immunodeficiency Disease, X-Linked (Basset Hound Type) (XSCID)

Severe Combined Immunodeficiency Disease (SCID) is an inherited immune disorder characterized by predispositions to severe infections. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates a deletion involving the IL2RG gene in Basset Hounds (c.4 bp deletion (del CCTC); g.chrX:55484657-55484660).

Severe Combined Immunodeficiency Disease, X-Linked (Corgi Type) (XSCID)

Severe Combined Immunodeficiency Disease (SCID) is an inherited immune disorder characterized by predispositions to severe infections. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates an insertion involving the IL2RG gene in Cardigan Welsh Corgis and Pembroke Welsh Corgis (c.1 bp insertion (ins C); g.chrX:55483459-55483460).

Shar-Pei Autoinflammatory Disease (SPAID)

This genetic variant is associated with an autoimmune condition that results in episodic fevers and swollen joints in Chinese Shar-Pei.

Skeletal Dysplasia 2 (SD2)

This genetic variant is associated with an inherited musculoskeletal disease, causing dwarfism in Labrador Retrievers.

Spinal Dysraphism

This genetic variant is associated with an inherited developmental disease affecting Weimaraners. Affected dogs have abnormal development of the spinal cord resulting in neurologic disease, and clinical signs can vary from mild to severe.

Recommended by the following AKC Parent Clubs: Weimaraner

Spinocerebellar Ataxia (Alpine Dachsbrake Type) (SCA)

This genetic variant is associated with an inherited, severe neurologic disease called spinocerebellar ataxia. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates a SNP involving the SCN8A gene in Alpine Dachsbrake dogs (c.G/T; g.chr27:43476519).

Spinocerebellar Ataxia (Terrier Type) (SCA)

This genetic variant is associated with an inherited, severe neurologic disease called spinocerebellar ataxia. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates a SNP involving the KCNJ10 gene in terriers (c.C>G; g.chr38:22140300).

Spondylocostal Dysostosis (SCD)

This genetic variant is associated with an inherited, fatal skeletal disorder.

Stargardt Disease (STGD)

This genetic variant is associated with an inherited eye disease and progressive vision loss in Labrador Retrievers.

Startle Disease

Startle disease or hyperekplexia is a severe, inherited neurologic disorder affecting Irish Wolfhounds.

Subacute Necrotizing Encephalopathy (Yorkshire Terrier Type)

This genetic variant is associated with an inherited neurologic disorder in Yorkshire terriers.

Thrombopathia (American Eskimo Dog Type)

Thrombopathia is an inherited bleeding disorder affecting platelet function. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates an insertion involving the RASGRP1 gene in American Eskimo Dogs (c.1 bp insertion (ins A); g.chr18:52417256-52417257).

Thrombopathia (Basset Hound Type)

Thrombopathia is an inherited bleeding disorder affecting platelet function. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates a deletion involving the RASGRP1 gene in Basset Hounds (c.3 bp deletion (del TCT); g.chr18:52417313-52417315).

Recommended by the following AKC Parent Clubs: Basset Hound

Thrombopathia (Newfoundland Type)

Thrombopathia is an inherited bleeding disorder affecting platelet function. Multiple genetic variants have been identified that are associated with this disease, and this specific genetic variant investigates a SNP involving the RASGRP1 gene in Newfoundlands (c.C>T; g.chr18:52419245).

Trapped Neutrophil Syndrome (TNS)

This genetic variant is associated with an inherited immune disease in Border Collies.

Ullrich Congenital Muscular Dystrophy (Labrador Retriever Type 1)

This genetic variant is associated with an inherited muscle disease in Labrador Retrievers.

Ullrich Congenital Muscular Dystrophy (Labrador Retriever Type 2)

This genetic variant is associated with an inherited muscle disease in Labrador Retrievers.

Urolithiasis (Native American Indian Dog Type)

Urolithiasis is a term for developing stones in the urinary tract. This genetic variant is associated with an inherited disease that leads to uroliths.

Van Den Ende-Gupta Syndrome (VDEGS)

This genetic variant is associated with Van Den Ende-Gupta Syndrome, which is an inherited bone disorder.

Von Willebrand Disease I (VWDI)

Von Willebrand disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Affected dogs have lower levels of von Willebrand coagulation factor.

Recommended by the following AKC Parent Clubs: Doberman Pinscher, German Pinscher, Manchester Terrier, Poodle

Optional for the following AKC Parent Clubs: Bernese Mountain Dog, Coton de Tulear, Irish Red and White Setter

Von Willebrand Disease II (VWDII)

Von Willebrand’s disease type II (VWDII) is an inherited bleeding disorder. Affected dogs have lower levels of von Willebrand coagulation factor.

Von Willebrand Disease III (Kooikerhondje Type) (VWDIII)

Von Willebrand’s disease type II (VWDII) is an inherited bleeding disorder. Affected dogs have lower levels of von Willebrand coagulation factor. This specific genetic variant is found in Nederlandse-Kooikerhondje dogs.

Recommended by the following AKC Parent Clubs: Nederlandse-Kooikerhondje

Von Willebrand Disease III (Scottish Terrier Type) (VWDIII)

Von Willebrand’s disease type III (VWDIII) is an inherited bleeding disorder. Affected dogs have lower levels of von Willebrand coagulation factor. This specific genetic variant is found in Scottish terriers.

Recommended by the following AKC Parent Clubs: Scottish Terrier

Von Willebrand Disease III (Shetland Sheepdog Type) (VWDIII)

Von Willebrand’s disease type III (VWDIII) is an inherited bleeding disorder. Affected dogs have lower levels of von Willebrand coagulation factor. This specific genetic variant is found in Shetland sheepdogs.

Included Trait Tests (Including Coat Colors)

AKC DNA + Health includes the following tests for colors and other traits. Color is a complex trait and cannot always be predicted by genetic tests. Understanding of how these genes interact to determine color is an evolving area of research and cannot replace breeder observation of color (phenotype).

A Locus (Agouti)

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)

The saddle tan patterning is determined by this genetic trait.

B Locus (Brown)

This brown locus evaluates 6 different alleles for brown.

Brachycephaly

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.

Chondrodysplasia (CDPA)

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

Co Locus (Cocoa, French Bulldog Type)

The cocoa locus determines brown in French Bulldogs.

Cu Locus (Curly)

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

D Locus (Dilute)

This genetic test evaluates 3 different alleles for diluting pigment, which is associated with lighter coat color, such as blue and silver.

E Locus

This genetic test evaluates seven loci (e¹, e², e³, e^A, E^g, E^h, and E^m) to determine pigment production of phaeomelanin (yellow/red pigment, e) or eumelanin (black/brown pigment, E).

H Locus (Harlequin, Great Dane Type)

The H locus helps determine a coat pattern of patches of full color on a white background in Great Danes.

Hairlessness

This genetic variant for hairlessness impacts American Hairless Terriers and Scottish Deerhounds.

Hr Locus (FOXI3 Hairless Gene Test, Mexican Hairless, Peruvian Hairless and Chinese Crested Type)

This genetic variant for hairlessness in certain breeds of dogs, like Chinese Crested.

I Locus (Intensity)

The I locus has been associated with extreme dilution of the light, yellow/red pigment (phaeomelanin, e/e genotype at the E locus) in many breeds.

IC Locus (Improper Coat/Furnishings)

This genetic test helps determines improper coat and furnishings.

K Locus (Dominant Black)

This genetic test helps determine the K locus, which is important for black and expression of the A locus.

L Locus (Long Hair/Fluffy)

The L locus genetic test investigates genetic variants related to the FGF5 gene, which helps determine long hair or fluffy coats.

M Locus (Merle)

The M locus genetic test provides a result with a specific size, which has been associated with the potential to produce a spectrum of coat colors, including the classic merle patterning. This test does not determine coat patterning, but provides genotypes to help make breeding decisions and suggest coat pattern.

Polydactyly (Common Variant)

Polydactyly is a trait of having extra toes. Multiple genetic variants have been identified that are associated with muscular dystrophy. This specific genetic test investigates an insertion involving the LMBR1 gene. Dogs can still have polydactyly without the identified genetic variants, as multiple genes likely contribute to this trait.

Polydactyly (Great Pyrenees Type)

Polydactyly is a trait of having extra toes. Multiple genetic variants have been identified that are associated with muscular dystrophy. This specific genetic test investigates an insertion involving the ALX4 gene. Dogs can still have polydactyly without the identified genetic variants, as multiple genes likely contribute to this trait.

R Locus (Roan/Ticked)

This genetic test helps determine the R locus, which helps determine roan or ticking patterns.

S Locus (White Spotting, Parti, or Piebald)

The S Locus genetic test helps determine white markings.

Sex Determination

This marker is used to identify the Y chromosome.

SD Locus (Shedding)

Social Behavior

This genetic variant may be associated with greater attention to stimuli and decreased independent problem solving when around people. Behavior is a complex trait and the role this gene plays in determining an individual dog’s temperament is not clear.

T Locus (Natural Bobtail)

Please Note: AKC DNA + Health Tests are for informational purposes only. A normal result does not exclude a different cause of this disease, either from a different genetic variant, or from another cause. Abnormal results are not diagnostic for the disease. If you are concerned your dog may have this disease, please consult your veterinarian.

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