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Canine Disease Detection

 
Canine_Disease_Detection

Testing for 180 Diseases

Optimal Selection™ is a unique multipurpose test. Instead of series of one-off tests for diseases and individual mutations, Optimal Selection delivers a comprehensive set of results via one swab sample for more than 180 genetic diseases (as well as diversity and trait testing!). However, because not all gene variants cause disease in each breed, and most disease variants have not been investigated in all breeds, detailed information about the test results are provided in three categories:

  1. Disorders known to be relevant to the tested breed
  2. New potential disorders
  3. Other disorders, usually ones not found to be significant in the breed

As genetic samples are collected and new potential disorders become known, they are listed only after certain criteria have been met to suggest they may be of significance in the breed:

  • The result is verified by a secondary technology
  • Clinical confirmation is obtained

 

Once these criteria have been met the condition is listed as a new potential disorder in the breed and additional follow-up and analysis is performed. In this way, Optimal Selection users—through their sample submissions—help with ongoing research, and help to provide early surveillance for disorders that may be spreading in the population.

Following is a list of diseases that are covered by Optimal Selection. Note that not every disease is applicable to every breed. Please be aware that, due to differences in laws by country, this test list applies to US customers only. For international inquiries, please contact us for more information.

Canine Disease Screenings

Blood
Bleeding disorder due to P2RY12 defect
Canine Cyclic Neutropenia, Cyclic Hematopoiesis, Gray Collie Syndrome, (CN)
Canine Scott Syndrome
Factor IX Deficiency or Hemophilia B; Gly379Glu mutation
Factor IX Deficiency or Hemophilia B; mutation originally found in Airedale Terrier
Factor IX Deficiency or Hemophilia B; mutation originally found in Lhasa Apso
Factor VII Deficiency
Factor VIII Deficiency or Hemophilia A; Cys548Tyr mutation originally found in German Shepherd Dog
Factor VIII Deficiency or Hemophilia A; mutation originally found in Boxer
Factor VIII Deficiency or Hemophilia A; mutation originally found in German Shepherd Dog
Factor VIII Deficiency or Hemophilia A; mutation originally found in Havanese
Factor VIII Deficiency or Hemophilia A; mutation originally found in Old English Sheepdog
Factor XI Deficiency
Glanzmann Thrombasthenia Type I, (GT); mutation originally found in Great Pyrenees
Glanzmann Thrombasthenia Type I, (GT); mutation originally found in Mixed breed
Hereditary Elliptocytosis
Hereditary Phosphofructokinase (PFK) Deficiency
Macrothrombocytopenia; disease-linked variant originally found in Norfolk and Cairn Terrier
May-Hegglin Anomaly, (MHA)
Prekallikrein Deficiency
Pyruvate Kinase Deficiency; mutation originally found in Beagle
Pyruvate Kinase Deficiency; mutation originally found in Pug
Pyruvate Kinase Deficiency; mutation originally found in West Highland White Terrier
Trapped Neutrophil Syndrome, (TNS)
von Willebrand's Disease (vWD) Type 1; mutation originally found in Doberman Pinscher
von Willebrand's Disease (vWD) Type 2; mutation originally found in German Wirehaired Pointer
von Willebrand's Disease (vWD) Type 3; mutation originally found in Kooikerhondje
von Willebrand's Disease (vWD) Type 3; mutation originally found in Scottish Terrier
von Willebrand's Disease (vWD) Type 3; mutation originally found in Shetland Sheepdog
Dental / Oral
Amelogenesis Imperfecta, (AI)
Dental Hypomineralization; mutation originally found in Border Collie
 
Endocrine
Congenital Hypothyroidism; mutation originally found in Tenterfield Terrier
Congenital Hypothyroidism; mutation originally found in Toy Fox- and Rat Terrier
Persistent Müllerian Duct Syndrome, (PMDS); mutation originally found in Miniature Schnauzer
 
Eyes
Canine Multifocal Retinopathy 1, (CMR1); Mastiff-related breeds mutation
Canine Multifocal Retinopathy 2, (CMR2); mutation originally found in Coton de Tulear
Canine Multifocal Retinopathy 3, (CMR3); mutation originally found in Lapponian Herder
Cone Degeneration, (CD) or Achromatopsia; mutation originally found in Alaskan Malamute
Cone Degeneration, (CD) or Achromatopsia; mutation originally found in German Shepherd Dog
Cone Degeneration, (CD) or Achromatopsia; mutation originally found in German Shorthaired Pointer
Cone-Rod Dystrophy 1, (crd1); mutation originally found in American Staffordshire Terrier
Cone-Rod Dystrophy 2, (crd2); mutation originally found in Pit Bull Terrier
Cone-Rod Dystrophy, (cord1-PRA / crd4)
Cone-Rod Dystrophy, Standard Wirehaired Dachshund, (crd SWD)
Congenital Eye Disease; mutation originally found in Irish Soft Coated Wheaten Terrier
Dominant Progressive Retinal Atrophy, (DPRA)
Generalized Progressive Retinal Atrophy
Golden Retriever Progressive Retinal Atrophy 1, (GR_PRA 1)
Primary Hereditary Cataract, (PHC); mutation originally found in Australian Shepherd
Primary Lens Luxation, (PLL)
Primary Open Angle Glaucoma, (POAG); mutation originally found in Beagle
Primary Open Angle Glaucoma, (POAG); mutation originally found in Basset Fauve de Bretagne
Primary Open Angle Glaucoma, (POAG); mutation originally found in Norwegian Elkhound
Primary Open Angle Glaucoma, (POAG); mutation originally found in Petit Basset Griffon Vendeen
Primary Open Angle Glaucoma and Primary Lens Luxation, (POAG/PLL); mutation originally found in Shar-Pei
Progressive Retinal Atrophy Cone-Rod Dystrophy, (cord1-PRA / crd4)
Progressive Retinal Atrophy Type III, (PRA type III); mutation originally found in Tibetan Spaniel and Tibetan Terrier
Progressive Retinal Atrophy, (CNGA1-PRA); mutation originally found in Shetland Sheepdog
Progressive Retinal Atrophy, (PAP1_PRA); mutation originally found in Papillon and Phalène
Progressive Retinal Atrophy, (PRA); mutation originally found in Basenji
Progressive Retinal Atrophy; mutation originally found in Swedish Vallhund
Rod-Cone Dysplasia 1, (rcd1); mutation originally found in Irish Setter
Rod-Cone Dysplasia 1a, (rcd1a); mutation originally found in Sloughi
Rod-Cone Dysplasia 3, (rcd3)
X-Linked Progressive Retinal Atrophy 2, (XLPRA2)
Heart
Dilated Cardiomyopathy, (DCM); mutation originally found in Doberman Pinscher (USA)
Dilated Cardiomyopathy, (DCM); mutation originally found in Standard Schnauzer
Long QT Syndrome in English Springer Spaniel
Immune System
Autosomal Recessive Severe Combined Immunodeficiency, (ARSCID)
Canine Leukocyte Adhesion Deficiency (CLAD), type III; mutation originally found in German Shepherd Dog
Complement 3 (C3) Deficiency
Myeloperoxidase Deficiency; mutation originally found in Italian Hound
Primary Ciliary Dyskinesia, (PCD)
Severe Combined Immunodeficiency, (SCID); mutation originally found in Frisian Water Dogs
X-linked Severe Combined Immunodeficiency, (XSCID); mutation originally found in Basset Hound
X-linked Severe Combined Immunodeficiency, (XSCID); mutation originally found in Cardigan Welsh Corgi
Kidneys / Urinary
Cystinuria Type I-A; mutation originally found in Newfoundland Dog
Cystinuria Type II-A; mutation originally found in Australian Cattle Dog
Fanconi Syndrome
Hyperuricosuria, (HUU)
Polycystic Kidney Disease, (PKD); mutation originally found in Bull Terrier
Primary Hyperoxaluria, (PH); mutation originally found in Coton de Tulear
Protein Losing Nephropathy, (PLN); NPHS1 gene variant
Renal Cystadenocarcinoma and Nodular Dermatofibrosis, (RCND)
X-Linked Hereditary Nephropathy, (XLHN); mutation originally found in Navasota Dog
X-Linked Hereditary Nephropathy, (XLHN); mutation originally found in Samoyed
Xanthinuria, Type 1a; mutation originally found in Mixed breed
Xanthinuria, Type 2a; mutation originally found in Toy Manchester Terrier
Xanthinuria, Type 2b; mutation originally found in Cavalier King Charles Spaniel and English Cocker Spaniel
Metabolism
Glycogen Storage Disease Type Ia, (GSD Ia)
Glycogen Storage Disease Type II or Pompe's Disease, (GSD II)
Glycogen Storage Disease Type IIIa, (GSD IIIa)
Hypocatalasia or Acatalasemia
Intestinal Cobalamin Malabsorption or Imerslund-Gräsbeck Syndrome, (IGS); mutation originally found in Beagle
Intestinal Cobalamin Malabsorption or Imerslund-Gräsbeck Syndrome, (IGS); mutation originally found in Border Collie
Mucopolysaccharidosis Type IIIA, (MPS IIIA); mutation originally found in Dachshund
Mucopolysaccharidosis Type VII, (MPS VII); mutation originally found in Brazilian Terrier
Mucopolysaccharidosis Type VII, (MPS VII); mutation originally found in German Shepherd Dog
Pyruvate Dehydrogenase Phosphatase 1 (PDP1) Deficiency
 
Muscles
Cavalier King Charles Spaniel Muscular Dystrophy, (CKCS-MD)
Centronuclear Myopathy, (CNM); mutation originally found in Great Dane
Centronuclear Myopathy, (CNM); mutation originally found in Labrador Retriever
Congenital Myasthenic Syndrome, (CMS); mutation originally found in Jack Russell Terrier
Congenital Myasthenic Syndrome, (CMS); mutation originally found in Labrador Retriever
Congenital Myasthenic Syndrome, (CMS); mutation originally found in Old Danish Pointing Dog
Duchenne or Dystrophin Muscular Dystrophy, (DMD); mutation originally found in Golden Retriever
Duchenne or Dystrophin Muscular Dystrophy, (DMD); mutation originally found in Norfolk Terrier
Episodic Falling Syndrome, (EFS)
Exercise-Induced Collapse, (EIC)
Muscular Dystrophy, Ullrich-type; mutation originally found in Landseer
Muscular Hypertrophy or Double Muscling
Myotonia Congenita; mutation originally found in Australian Cattle Dog
Nemaline Myopathy; mutation originally found in American Bulldog
Paroxysmal Dyskinesia, (PxD); mutation originally found in Soft Coated Wheaton Terrier
X-Linked Myotubular Myopathy; mutation originally found in Labrador Retriever
X-Linked Myotubular Myopathy; mutation originally found in Rottweiler
Nervous System
Adult-Onset Neuronal Ceroid Lipofuscinosis, (Adult-onset NCL); mutation originally found in Tibetan Terrier
Alaskan Husky Encephalopathy, (AHE)
Acral Mutilation Syndrome, (AMS)
Alexander Disease, (AxD); mutation originally found in Labrador Retriever
Bandera's Neonatal Ataxia, (BNAt)
Benign Familial Juvenile Epilepsy or Remitting Focal Epilepsy
Cerebellar Cortical Degeneration, (CCD); mutation originally found in Vizsla and Wirehaired Vizsla
Cerebral Dysfunction; mutation originally found in Friesian Stabyhoun
Dandy-Walker-Like Malformation (DWLM); mutation originally found in Eurasier
Degenerative Myelopathy, (DM)
Early-Onset Progressive Polyneuropathy; mutation originally found in Alaskan Malamute
Early-Onset Progressive Polyneuropathy; mutation originally found in Greyhound
Fetal Onset Neuroaxonal Dystrophy, (FNAD)
Globoid Cell Leukodystrophy or Krabbe Disease, (GLD); mutation originally found in Irish Setter
Globoid Cell Leukodystrophy or Krabbe Disease, (GLD); mutation originally found in Terriers
GM2 Gangliosidosis; mutation originally found in Japanese Chin
GM2 Gangliosidosis; mutation originally found in Toy Poodle
Hereditary Ataxia or Cerebellar Ataxia; mutation originally found in Old English Sheepdog and Gordon Setter
Hyperekplexia or Startle Disease
Hypomyelination; mutation originally found in Weimaraner
Juvenile Laryngeal Paralysis and Polyneuropathy, (JLPP, POANV); mutation originally found in Black Russian Terrier and Rottweiler
Juvenile Encephalopathy; mutation originally found in Parson Russell Terrier
Juvenile Myoclonic Epilepsy, (JME); mutation originally found in Rhodesian Ridgeback
L-2-Hydroxyglutaric Aciduria, (L2HGA); mutation originally found in Staffordshire Bull Terrier
L-2-Hydroxyglutaric Aciduria, (L2HGA); mutation originally found in West Highland White Terrier
Lagotto Storage Disease, (LSD)
Narcolepsy; mutation originally found in Dachshund
Narcolepsy; mutation originally found in Labrador Retriever
Neonatal Cerebellar Cortical Degeneration or Cerebellar Abiotrophy, (NCCD)
Neonatal Encephalopathy with Seizures, (NEWS)
Neuroaxonal Dystrophy; mutation originally found in Spanish Water Dog
Neuronal Ceroid Lipofuscinosis 1, (NCL1); mutation originally found in Dachshund
Neuronal Ceroid Lipofuscinosis 10, (NCL10); mutation originally found in American Bulldog
Neuronal Ceroid Lipofuscinosis 7, (NCL7); mutation originally found in Chinese Crested Dog and Chihuahua
Neuronal Ceroid Lipofuscinosis 8, (NCL8); mutation originally found in Alpine Dachsbracke
Neuronal Ceroid Lipofuscinosis 8, (NCL8); mutation originally found in Australian Shepherd
Neuronal Ceroid Lipofuscinosis 8, (NCL8); mutation originally found in English Setter
Progressive Early-Onset Cerebellar Ataxia; mutation originally found in Finnish Hound
Sensory Ataxic Neuropathy, (SAN)
Sensory Neuropathy; mutation originally found in Border Collie
Spinal Dysraphism
Spinocerebellar Ataxia or Late-Onset Ataxia, (SCA, LOA)
Spinocerebellar Ataxia with Myokymia and/or Seizures, (SAMS)
Spongy Degeneration with Cerebellar Ataxia, (SDCA1); mutation originally found in Belgian Shepherd Dog and Malinois
X-Linked Tremors; mutation originally found in English Springer Spaniel
Pharmacology
Multi-Drug Resistance 1 (MDR1), Ivermectin Sensitivity
Respiratory
Acute Respiratory Distress Syndrome, (ARDS); mutation originally found in Dalmatian
Skeletal
Chondrodysplasia; mutation originally found in Norwegian Elkhound and Karelian Bear Dog
Cleft Lip and Palate with Syndactyly; mutation originally found in Nova Scotia Duck Tolling Retriever
Cleft Palate; mutation originally found in Nova Scotia Duck Tolling Retriever
Craniomandibular Osteopathy, (CMO); mutation associated with terrier breeds
Hereditary Vitamin D-Resistant Rickets, (HVDRR)
Osteochondrodysplasia; mutation originally found in Miniature Poodle
Osteochondromatosis; mutation originally found in American Staffordshire Terrier
Osteogenesis Imperfecta, (OI); mutation originally found in Beagle
Osteogenesis Imperfecta, (OI); mutation originally found in Dachshund
Skeletal Disease; mutation originally found in Karelian Bear Dog
Skeletal Dysplasia 2, (SD2)
Spondylocostal Dysostosis
Van den Ende-Gupta Syndrome, (VDEGS)

 
Skin
Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis, (CKCSID)
Dystrophic Epidermolysis Bullosa; mutation originally found in Central Asian Ovcharka
Dystrophic Epidermolysis Bullosa; mutation originally found in Golden Retriever
Epidermolytic Hyperkeratosis
Focal Non-Epidermolytic Palmoplantar Keratoderma, (FNEPPK); mutation originally found in Dogue de Bordeaux
Harlequin Coat Pattern
Hereditary Footpad Hyperkeratosis, (HFH)
Ichthyosis, (ARCI); mutation originally found in American Bulldog
Ichthyosis; mutation originally originally found in Great Dane
Lamellar Ichthyosis, (LI)
Ligneous Membranitis; mutation originally found in Scottish Terrier
Musladin-Lueke syndrome, (MLS)
X-Linked Ectodermal Dysplasia, (XHED) or Anhidrotic Ectodermal Dysplasia
*Available through partner laboratories for an additional charge.