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Genetic Info

Home Genetic Info

Genetic Health Testing List

Below you will find a list of disorders/diseases we test for at our kennel currently. This list is subject to change depending on the different labs we use.

What do we test for?

 

  • Chondrodystrophy (CDDY and IVDD Risk) and Chondrodysplasia (CDPA)
  • Canine Multifocal Retinopathy 1 (CMR1)
  • Degenerative Myelopathy (DM)
  • Hyperuricosuria (HUU)
  • Coat Color alleles
  • Coat traits
  • MDR1 Drug Sensitivity (MDR1) (Chromosome 14)
  • P2Y12 Receptor Platelet Disorder (P2RY12) (Chromosome 23)
  • Factor IX Deficiency, Hemophilia B (F9 Exon 7, Terrier Variant) (Chromosome X)
  • Factor IX Deficiency, Hemophilia B (F9 Exon 7, Rhodesian Ridgeback Variant) (Chromosome X)
  • Factor VII Deficiency (F7 Exon 5) (Chromosome 22)
  • Factor VIII Deficiency, Hemophilia A (F8 Exon 10, Boxer Variant) (Chromosome X)
  • Factor VIII Deficiency, Hemophilia A (F8 Exon 11, Shepherd Variant 1) (Chromosome X)
  • Factor VIII Deficiency, Hemophilia A (F8 Exon 1, Shepherd Variant 2) (Chromosome X)
  • Thrombopathia (RASGRP2 Exon 8) (Chromosome 18)
  • Thrombopathia (RASGRP2 Exon 5, American Eskimo Dog Variant) (Chromosome 18)
  • Von Willebrand Disease Type II (VWF Exon 28) (Chromosome 27)
  • Von Willebrand Disease Type III (VWF Exon 4) (Chromosome 27)
  • Von Willebrand Disease Type I (VWF) (Chromosome 27)
  • Canine Leukocyte Adhesion Deficiency Type III (LAD3) (FERMT3) (Chromosome 18)
  • Congenital Macrothrombocytopenia (TUBB1 Exon 1, Cavalier King Charles Spaniel Variant) (Chromosome 24)
  • Canine Elliptocytosis (SPTB Exon 30) (Chromosome 8)
  • Cyclic Neutropenia, Gray Collie Syndrome (AP3B1 Exon 20) (Chromosome 31)
  • Glanzmann's Thrombasthenia Type I (ITGA2B Exon 12) (Chromosome 9)
  • May-Hegglin Anomaly (MYH9) (Chromosome 10)
  • Prekallikrein Deficiency (KLKB1 Exon 8) (Chromosome 16)
  • Pyruvate Kinase Deficiency (PKLR Exon 5) (Chromosome 7)
  • Pyruvate Kinase Deficiency (PKLR Exon 7 Labrador Variant) (Chromosome 7)
  • Pyruvate Kinase Deficiency (PKLR Exon 7 Pug Variant) (Chromosome 7)
  • Pyruvate Kinase Deficiency (PKLR Exon 7 Beagle Variant) (Chromosome 7)
  • Pyruvate Kinase Deficiency (PKLR Exon 10) (Chromosome 7)
  • Trapped Neutrophil Syndrome (VPS13B) (Chromosome 13)
  • Ligneous Membranitis (PLG) (Chromosome 1)
  • Congenital Hypothyroidism (TPO, Tenterfield Terrier Variant) (Chromosome 17)
  • Complement 3 (C3) deficiency (C3) (Chromosome 20)
  • Severe Combined Immunodeficiency (PRKDC) (Chromosome 29)
  • Severe Combined Immunodeficiency (RAG1) (Chromosome 18)
  • X-linked Severe Combined Immunodeficiency (IL2RG Variant 2) (Chromosome X)
  • Progressive Retinal Atrophy - rcd1 Rod-cone dysplasia, rcd1 (PDE6B Exon 21 Irish Setter Variant) (Chromosome 3)
  • Progressive Retinal Atrophy Rod-cone dysplasia, rcd1a (PDE6B Exon 21 Sloughi Variant) (Chromosome 3)
  • Progressive Retinal Atrophy - rcd3 Rod-cone dysplasia, rcd3 (PDE6A) (Chromosome 4)
  • Progressive Retinal Atrophy - CNGA (CNGA1 Exon 9) (Chromosome 13)
  • Progressive Retinal Atrophy - prcd Progressive rod-cone degeneration (PRCD Exon 1) (Chromosome 9)
  • Progressive Retinal Atrophy (CNGB1) (Chromosome 2)
  • Progressive Retinal Atrophy (SAG) (Chromosome 25)
  • Golden Retriever Progressive Retinal Atrophy 2 (TTC8) (Chromosome 8)
  • Progressive Retinal Atrophy - crd1 (PDE6B) (Chromosome 3)
  • Progressive Retinal Atrophy - crd2 (IQCB1) (Chromosome 33)
  • Progressive Retinal Atrophy - crd4/cord1 (RPGRIP1) (Chromosome 15)
  • Collie Eye Anomaly, Choroidal Hypoplasia (NHEJ1) (Chromosome 37)
  • Achromatopsia (CNGA3 Exon 7 German Shepherd Variant) (Chromosome 10)
  • Achromatopsia (CNGA3 Exon 7 Labrador Retriever Variant) (Chromosome 10)
  • Autosomal Dominant Progressive Retinal Atrophy (RHO) (Chromosome 20)
  • Canine Multifocal Retinopathy cmr1 (BEST1 Exon 2) (Chromosome 18)
  • Canine Multifocal Retinopathy cmr2 (BEST1 Exon 5) (Chromosome 18)
  • Canine Multifocal Retinopathy cmr3 (BEST1 Exon 10 Deletion) (Chromosome 18)
  • Canine Multifocal Retinopathy cmr3 (BEST1 Exon 10 SNP) (Chromosome 18)
  • Glaucoma Primary Open Angle Glaucoma (ADAMTS10 Exon 9) (Chromosome 20)
  • Glaucoma Primary Open Angle Glaucoma (ADAMTS10 Exon 17) (Chromosome 20)
  • Glaucoma Primary Open Angle Glaucoma (ADAMTS17 Exon 11) (Chromosome 3)
  • Glaucoma Primary Open Angle Glaucoma (ADAMTS17 Exon 2) (Chromosome 3)
  • Hereditary Cataracts, Early-Onset Cataracts, Juvenile Cataracts (HSF4 Exon 9 Shepherd Variant) (Chromosome 5)
  • Primary Lens Luxation (ADAMTS17) (Chromosome 3)
  • Congenital stationary night blindness (RPE65) (Chromosome 6)
  • Macular Corneal Dystrophy (MCD) (CHST6) (Chromosome 5)
  • 2,8-Dihydroxyadenine (2,8-DHA) Urolithiasis (APRT) (Chromosome 5)
  • Cystinuria Type I-A (SLC3A1) (Chromosome 10)
  • Cystinuria Type II-A (SLC3A1) (Chromosome 10)
  • Cystinuria Type I-A (SLC7A9) (Chromosome 1)
  • Long QT Syndrome (KCNQ1) (Chromosome 18)
  • Muscular Dystrophy Cavalier King Charles Spaniel Variant 1 (Chromosome X)
  • Muscular Dystrophy Muscular Dystrophy (DMD Pembroke Welsh Corgi Variant ) (Chromosome X)
  • Muscular Dystrophy Muscular Dystrophy (DMD Golden Retriever Variant) (Chromosome X)
  • Centronuclear Myopathy (PTPLA) (Chromosome 2)
  • Exercise-Induced Collapse (DNM1) (Chromosome 9)
  • Inherited Myopathy of Great Danes (BIN1) (Chromosome 19)
  • Bully Whippet Syndrome (MSTN) (Chromosome 37)
  • Myotonia Congenita (CLCN1 Exon 7) (Chromosome 16)
  • Myotonia Congenita (CLCN1 Exon 23) (Chromosome 16)
  • Myotubular Myopathy 1, X-linked Myotubular Myopathy (MTM1) (Chromosome X)
  • Hypocatalasia, Acatalasemia (CAT) (Chromosome 18)
  • Pyruvate Dehydrogenase Deficiency (PDP1) (Chromosome 29)
  • Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption (CUBN Exon 53) (Chromosome 2)
  • Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption (CUBN Exon 8) (Chromosome 2)
  • Congenital Myasthenic Syndrome (CHAT) (Chromosome 28)

What do we test for?

 

  • Hyperuricosuria and Hyperuricemia or Urolithiasis (SLC2A9) (Chromosome 3)
  • Polycystic Kidney Disease (PKD1) (Chromosome 6)
  • Primary Hyperoxaluria (AGXT) (Chromosome 25)
  • Protein Losing Nephropathy (NPHS1) (Chromosome 1)
  • X-Linked Hereditary Nephropathy (Samoyed Variant 2) (COL4A5 Exon 35) (Chromosome X)
  • Autosomal Recessive Hereditary Nephropathy, Familial Nephropathy (COL4A4 Exon 3) (Chromosome 25)
  • Primary Ciliary Dyskinesia (CCDC39 Exon 3) (Chromosome 34)
  • Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis (CKCSID), Dry Eye Curly Coat Syndrome (FAM83H Exon 5) (Chromosome 13)
  • X-linked Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia (EDA Intron 8) (Chromosome X)
  • Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND) (FLCN Exon 7) (Chromosome 5)
  • Glycogen Storage Disease Type II, Pompe's Disease (GAA) (Chromosome 9)
  • Glycogen Storage Disease Type Ia, Von Gierke Disease (G6PC) (Chromosome 9)
  • Glycogen Storage Disease Type IIIa (GSD IIIa) (AGL) (Chromosome 6)
  • Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A (SGSH Exon 6 Variant 1) (Chromosome 9)
  • Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A (SGSH Exon 6 Variant 2) (Chromosome 9)
  • Mucopolysaccharidosis Type VII, Sly Syndrome (GUSB Exon 5) (Chromosome 6)
  • Mucopolysaccharidosis Type VII, Sly Syndrome (GUSB Exon 3) (Chromosome 6)
  • Glycogen storage disease Type VII, Phosphofructokinase deficiency (PFKM Exon 21) (Chromosome 27)
  • Glycogen storage disease Type VII, Phosphofructokinase deficiency (PFKM Exon 8) (Chromosome 27)
  • Lagotto Storage Disease (ATG4D) (Chromosome 20)
  • Neuronal Ceroid Lipofuscinosis 1 (PPT1 Exon 8) (Chromosome 15)
  • Neuronal Ceroid Lipofuscinosis 2 (TPP1 Exon 4) (Chromosome 21)
  • Neuronal Ceroid Lipofuscinosis 1, Cerebellar Ataxia - NCL-A (ARSG Exon 2) (Chromosome 9)
  • Neuronal Ceroid Lipofuscinosis 1 (CLN5 Exon 4 Variant 1) (Chromosome 22)
  • Neuronal Ceroid Lipofuscinosis 6 (CLN6 Exon 7) (Chromosome 30)
  • Neuronal Ceroid Lipofuscinosis 8 (CLN8 Exon 2) (Chromosome 37)
  • Neuronal Ceroid Lipofuscinosis (MFSD8) (Chromosome 19)
  • Neuronal Ceroid Lipofuscinosis (CLN8) (Chromosome 37)
  • Neuronal Ceroid Lipofuscinosis 10 (CTSD Exon 5) (Chromosome 18)
  • Neuronal Ceroid Lipofuscinosis (CLN5 Exon 4 Variant 2) (Chromosome 22)
  • Adult-Onset Neuronal Ceroid Lipofuscinosis (ATP13A2) (Chromosome 2)
  • GM1 Gangliosidosis (GLB1 Exon 15 Shiba Inu Variant) (Chromosome 23)
  • GM1 Gangliosidosis (GLB1 Exon 15 Alaskan Husky Variant) (Chromosome 23)
  • GM1 Gangliosidosis (GLB1 Exon 2) (Chromosome 23)
  • GM2 Gangliosidosis (HEXB, Poodle Variant) (Chromosome 2)
  • GM2 Gangliosidosis (HEXA) (Chromosome 30)
  • Globoid Cell Leukodystrophy, Krabbe disease (GALC Exon 5) (Chromosome 8)
  • Autosomal Recessive Amelogenesis Imperfecta (Italian Greyhound Variant) (Chromosome 13)
  • Persistent Mullerian Duct Syndrome (AMHR2) (Chromosome 27)
  • Deafness and Vestibular Syndrome of Dobermans (DVDob, DINGS) (Chromosome 21)
  • Shar-Pei Autoinflammatory Disease (SPAID, Shar-Pei Fever) (MTBP) (Chromosome 13)
  • Alaskan Husky Encephalopathy, Subacute Necrotizing Encephalomyelopathy (SLC19A3) (Chromosome 25)
  • Alexander Disease (GFAP) (Chromosome 9)
  • Cerebellar Abiotrophy, Neonatal Cerebellar Cortical Degeneration (SPTBN2) (Chromosome 18)
  • Cerebellar Ataxia, Progressive Early-Onset Cerebellar Ataxia (SEL1L) (Chromosome 8)
  • Cerebellar Hypoplasia (VLDLR) (Chromosome 1)
  • Spinocerebellar Ataxia, Late-Onset Ataxia (CAPN1) (Chromosome 18)
  • Spinocerebellar Ataxia with Myokymia and/or Seizures (KCNJ10) (Chromosome 38)
  • Benign Familial Juvenile Epilepsy, Remitting Focal Epilepsy (LGI2) (Chromosome 3)
  • Fetal-Onset Neonatal Neuroaxonal Dystrophy (MFN2) (Chromosome 2)
  • Hypomyelination and Tremors (FNIP2) (Chromosome 15)
  • Shaking Puppy Syndrome, X-linked Generalized Tremor Syndrome (PLP) (Chromosome X)
  • L-2-Hydroxyglutaricaciduria (L2HGDH) (Chromosome 0)
  • Neonatal Encephalopathy with Seizures (NEWS) (ATF2) (Chromosome 36)
  • Polyneuropathy, NDRG1 Greyhound Variant (NDRG1 Exon 15) (Chromosome 13)
  • Polyneuropathy, NDRG1 Malamute Variant (NDRG1 Exon 4) (Chromosome 13)
  • Narcolepsy (HCRTR2 Intron 6) (Chromosome 12)
  • Progressive Neuronal Abiotrophy (Canine Multiple System Degeneration) (SERAC1 Exon 15) (Chromosome 1)
  • Progressive Neuronal Abiotrophy (Canine Multiple System Degeneration) (SERAC1 Exon 4) (Chromosome 1)
  • Juvenile Laryngeal Paralysis and Polyneuropathy (RAB3GAP1) (Chromosome 19)
  • Hereditary Sensory Autonomic Neuropathy (HSAN), Acral Mutilation Syndrome (GDNF-AS) (Chromosome 4)
  • Juvenile-Onset Polyneuropathy, Leonberger Polyneuropathy 1 (LPN1, ARHGEF10) (Chromosome 16)
  • Spongy Degeneration with Cerebellar Ataxia 1 (SDCA1), SeSAME/EAST (KCNJ10) (Chromosome 38)
  • Dilated Cardiomyopathy (PDK4) (Chromosome 14)
  • Congenital Myasthenic Syndrome (COLQ) (Chromosome 23)
  • Episodic Falling Syndrome (BCAN) (Chromosome 7)
  • Dystrophic Epidermolysis Bullosa (COL7A1) (Chromosome 20)
  • Ectodermal Dysplasia, Skin Fragility Syndrome (PKP1) (Chromosome 7)
  • Ichthyosis, Epidermolytic Hyperkeratosis (KRT10) (Chromosome 9)
  • Ichthyosis (PNPLA1) (Chromosome 12)
  • Ichthyosis (SLC27A4) (Chromosome 9)
  • Focal Non-Epidermolytic Palmoplantar Keratoderma, Pachyonychia Congenita (KRT16) (Chromosome 9)
  • Hereditary Footpad Hyperkeratosis (FAM83G) (Chromosome 5)
  • Hereditary Nasal Parakeratosis (SUV39H2) (Chromosome 2)
  • Musladin-Lueke Syndrome (ADAMTSL2) (Chromosome 9)
  • Cleft Lip and/or Cleft Palate (ADAMTS20) (Chromosome 27)
  • Hereditary Vitamin D-Resistant Rickets (VDR) (Chromosome 27)
  • Oculoskeletal Dysplasia 1, Dwarfism-Retinal Dysplasia (COL9A3, Labrador Retriever) (Chromosome 24)
  • Osteogenesis Imperfecta, Brittle Bone Disease (COL1A2) (Chromosome 14)
  • Osteogenesis Imperfecta, Brittle Bone Disease (SERPINH1) (Chromosome 21)
  • Osteogenesis Imperfecta, Brittle Bone Disease (COL1A1) (Chromosome 9)
  • Osteochondrodysplasia, Skeletal Dwarfism (SLC13A1) (Chromosome 14)
  • Skeletal Dysplasia 2 (COL11A2) (Chromosome 12)
  • Craniomandibular Osteopathy (CMO) (SLC37A2) (Chromosome 5)
  • Degenerative Myelopathy
  • Thrombopathia
  • X-linked Severe Combined Immunodeficiency
  • Malignant Hyperthermia
  • Alanine Aminotransferase Activity