certificate boerboel international genetic screening...certificate ===== name dog :nordbornas dan...

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====================================== Boerboel International G enetic Screening CERTIFICATE ====================================== Name dog : Nordbornas Dan Owner : Sophie & Mats Freier & Carlsson Registrationnumber : 201600191 Address : Trälket 11 MicroChipnumber : 941000016914446 Town : Töreboda Date of birth : 06-07-2015 Country : Sweden Gender : Male B.I.G.S. (Boerboel International Genetic Screening) results found in the Boerboel breed: Disorder Result Neurological disorders L-2-Hydroxyglutaric aciduria (L2HGA); mutation 1 Free L-2-Hydroxyglutaric aciduria (L2HGA); mutation 2 originally found in Staffordshire Bull Terrier Unknown Neonatal Encephalopathy with Seizures (NEWS) Free Cerebellar abiotrophy or neonatal cerebellar cortical degeneration (NCCD) Free Polyneuropathy; mutation originally found in Alaskan Malamute Free Bandera's Neonatal Ataxia (BNAt) Unknown Progressive early-onset cerebellar ataxia; mutation originally found in Finnish Hound Free Benign Familial Juvenile Epilepsy or Remitting Focal Epilepsy Free Polyneuropathy; mutation originally found in Greyhound Free Neuronal Ceroid Lipofuscinosis 1 (NCL1) Free Neuronal Ceroid Lipofuscinosis, type 12, mutation originally found in Tibetan terrier Free Neuronal Ceroid Lipofuscinosis 10 (NCL10) Free Neuronal Ceroid Lipofuscinosis 2 (NCL2) Unknown Neuronal Ceroid Lipofuscinosis 4A (NCL4) Unknown Neuronal Ceroid Lipofuscinosis 5 (NCL5) Unknown Neuronal Ceroid Lipofuscinosis 6 (NCL6) Unknown Fetal-onset Neuroaxonal Dystrophy (FNAD) Free L-2-hydroxyglutaric Aciduria (L2HGA), Yorkshire Terrier mutation Unknown Bandera's Neonatal Ataxia (BNAt) Free Alaskan Husky Encephalopathy (AHE) Free Neuronal Ceroid Lipofuscinosis 8 (NCL8) Free Neuronal Ceroid Lipofuscinosis 8 (NCL8), rare variant Unknown Spinocerebellar ataksia (SCA); mutation originally found in Parson Russell Terrier Free Shaking Puppy (X-linked Generalized Tremor); mutation originally found in English Springer Spaniel Free Hypomyelination and Tremor; mutation originally found in Weimaraner Free Lagotto Storage Disease Free Spinocerebellar ataxia with myokymia and/or seizures Free Spinal Dysraphism Free Dandy-Walker-Like Malformation (DWLM); mutation originally found in Eurasier Free Neuronal Ceroid Lipofuscinosis, (NCL7); mutation originally found in Chinese Crested Dog and Chihuahua Free Cerebral Dysfunction; mutation originally found in Friesian Stabyhoun Free Neuroaxonal Dystrophy (NAD); mutation originally found in Spanish Water Dog Unknown Eye disorders Canine Multifocal Retinopathy 1 (CMR1), Eye disorder. Free Collie Eye Anomaly (CEA) Unknown Cone-rod Dystrophy 1 (cord1-PRA) Free Congenital Stationary Night Blindness (CSNB) Unknown Autosomal Dominant Progressive Retinal Atrophy (ADPRA) Free Golden Retriever Progressive Retinal Atrophy 1 (GR_PRA 1) Unknown Primary Hereditary Cataract (PHC); mutation originally found in Australian Shepherd Free Primary Lens Luxation (PLL) Free Rod-Cone Dysplasia 1 (rcd1); mutation originally found in Irish Setter Free Rod-Cone Dysplasia 1a (rcd1a); mutation originally found in Sloughi Free Rod-Cone Dysplasia 3 (rcd3) Free X-Linked Progressive Retinal Atrophy 1 (XLPRA1) Free Cone-rod dystrophy (crd SWD); mutation originally found in Standard Wire-haired Dachshund Free

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Page 1: CERTIFICATE Boerboel International Genetic Screening...CERTIFICATE ===== Name dog :Nordbornas Dan Owner :Sophie & Mats Freier & Carlsson ... Factor IX Deficiency or Haemophilia B;

======================================Boerboel International Genetic Screening

CERTIFICATE======================================

Name dog : Nordbornas Dan Owner : Sophie & Mats Freier & CarlssonRegistrationnumber : 201600191 Address : Trälket 11

MicroChipnumber : 941000016914446 Town : TörebodaDate of birth : 06-07-2015 Country : Sweden

Gender : Male B.I.G.S. (Boerboel International Genetic Screening) results found in the Boerboel breed: Disorder ResultNeurological disordersL-2-Hydroxyglutaric aciduria (L2HGA); mutation 1 FreeL-2-Hydroxyglutaric aciduria (L2HGA); mutation 2 originally found in Staffordshire Bull Terrier UnknownNeonatal Encephalopathy w ith Seizures (NEWS) FreeCerebellar abiotrophy or neonatal cerebellar cortical degeneration (NCCD) FreePolyneuropathy; mutation originally found in Alaskan Malamute FreeBandera's Neonatal Ataxia (BNAt) UnknownProgressive early-onset cerebellar ataxia; mutation originally found in Finnish Hound FreeBenign Familial Juvenile Epilepsy or Remitting Focal Epilepsy FreePolyneuropathy; mutation originally found in Greyhound FreeNeuronal Ceroid Lipofuscinosis 1 (NCL1) FreeNeuronal Ceroid Lipofuscinosis, type 12, mutation originally found in Tibetan terrier FreeNeuronal Ceroid Lipofuscinosis 10 (NCL10) FreeNeuronal Ceroid Lipofuscinosis 2 (NCL2) UnknownNeuronal Ceroid Lipofuscinosis 4A (NCL4) UnknownNeuronal Ceroid Lipofuscinosis 5 (NCL5) UnknownNeuronal Ceroid Lipofuscinosis 6 (NCL6) UnknownFetal-onset Neuroaxonal Dystrophy (FNAD) FreeL-2-hydroxyglutaric Aciduria (L2HGA), Yorkshire Terrier mutation UnknownBandera's Neonatal Ataxia (BNAt) FreeAlaskan Husky Encephalopathy (AHE) FreeNeuronal Ceroid Lipofuscinosis 8 (NCL8) FreeNeuronal Ceroid Lipofuscinosis 8 (NCL8), rare variant UnknownSpinocerebellar ataksia (SCA); mutation originally found in Parson Russell Terrier FreeShaking Puppy (X-linked Generalized Tremor); mutation originally found in English Springer Spaniel FreeHypomyelination and Tremor; mutation originally found in Weimaraner FreeLagotto Storage Disease FreeSpinocerebellar ataxia w ith myokymia and/or seizures FreeSpinal Dysraphism FreeDandy-Walker-Like Malformation (DWLM); mutation originally found in Eurasier FreeNeuronal Ceroid Lipofuscinosis, (NCL7); mutation originally found in Chinese Crested Dog and Chihuahua FreeCerebral Dysfunction; mutation originally found in Friesian Stabyhoun FreeNeuroaxonal Dystrophy (NAD); mutation originally found in Spanish Water Dog Unknown Eye disordersCanine Multifocal Retinopathy 1 (CMR1), Eye disorder. FreeCollie Eye Anomaly (CEA) UnknownCone-rod Dystrophy 1 (cord1-PRA) FreeCongenital Stationary Night Blindness (CSNB) UnknownAutosomal Dominant Progressive Retinal Atrophy (ADPRA) FreeGolden Retriever Progressive Retinal Atrophy 1 (GR_PRA 1) UnknownPrimary Hereditary Cataract (PHC); mutation originally found in Australian Shepherd FreePrimary Lens Luxation (PLL) FreeRod-Cone Dysplasia 1 (rcd1); mutation originally found in Irish Setter FreeRod-Cone Dysplasia 1a (rcd1a); mutation originally found in Sloughi FreeRod-Cone Dysplasia 3 (rcd3) FreeX-Linked Progressive Retinal Atrophy 1 (XLPRA1) FreeCone-rod dystrophy (crd SWD); mutation originally found in Standard Wire-haired Dachshund Free

Page 2: CERTIFICATE Boerboel International Genetic Screening...CERTIFICATE ===== Name dog :Nordbornas Dan Owner :Sophie & Mats Freier & Carlsson ... Factor IX Deficiency or Haemophilia B;

Primary Open Angle Glaucoma; mutation originally found in Beagle FreeAchromatopsia or Cone Degeneration (CD); mutation originally found in German Shorthaired Pointer FreeOSD2 (Oculoskeletal Dysplasia 2) or DRD2 (Dwarfism-Retinal Dysplasia 2) UnknownCanine Multifocal Retinopathy 3 (cmr3); mutation originally found in Lapponian Herder FreeCanine Multifocal Retinopathy 2 (cmr2); mutation originally found in Coton de Tulear FreeGeneralized Progressive Retinal Atrophy; mutation originally found in Schapendoes UnknownGolden Retriever Progressive Retinal Atrophy 2 (GR_PRA 2) UnknownEarly Retinal Degeneration; mutation originally found in Norwegian Elkhound UnknownPrimary Hereditary Cataract (PHC); mutation originally found in Terriers UnknownProgressive Retinal Atrophy (PAP1_PRA); mutation originally found in Papillon and Phalene FreeProgressive Retinal Atrophy - adult onset; mutation originally found in Basenji FreeProgressive Retinal Atrophy (PRA), type III; mutation originally found in Tibetan Spaniel and Tibetan Terrier FreeCone-Rod Dystrophy 2 (crd2); mutation originally found in Pit Bull Terrier FreeGlaucoma; mutation originally found in Norwegian Elkhound FreePRA Progressive Retinal Atrophy; Swedish Vallhund marker test CarrierX-Linked Progressive Retinal Atrophy 2 (XLPRA2) FreeAchromatopsia or Cone Degeneration (CD); CNGB3 gene deletion FreeCone-Rod Dystrophy 1 (crd1); mutation originally found in American Staffordshire Terrier FreeProgressive Retinal Atrophy, (CNGA1-PRA); mutation originally found in Shetland Sheepdog Free Neuromuscular disordersDegenerative Myelopathy (DM) UnknownExercise-Induced Collapse (EIC) UnknownGloboid Cell Leukodystrophy (GLD) or Krabbe's disease, Terrier mutation FreeAlpha Fucosidosis UnknownGloboid Cell Leukodystrophy (GLD) or Krabbe's disease; mutation originally found in Irish Setter UnknownGM1 Gangliosidosis; mutation originally found in Portuguese Water Dog UnknownGM1 Gangliosidosis; mutation originally found in Alaskan Husky UnknownGM1 Gangliosidosis; mutation originally found in Shiba Dog UnknownEpisodic falling (EF) UnknownGM2 Gangliosidosis FreeHyperekplexia or Startle Disease FreeGM2 Gangliosidosis, mutation originally found in Japanese Chin FreeCongenital Myasthenic Syndrome (CMS) FreeGloboid Cell Leukodystrophy (GLD) or Krabbe's disease; mutation originally found in Irish Setter FreeCongenital Myasthenic Syndrome, (CMS); mutation originally found in Jack Russell Terrier Unknown Metabolic disordersGlycogen Storage Disease, type IIIa (GSDIIIa) FreeMucopolysaccharidosis Type VII (MPSVII); mutation originally found in Brazilian Terrier FreePyruvate Dehydrogenase Deficiency FreeGlycogen Storage Disease, type II or Pompe's disease FreeGlycogen Storage Disease, Type Ia (GSDIa) UnknownMucopolysaccharidosis Type I (MPSI) UnknownMucopolysaccharidosis Type IIIA (MPSIIIA); mutation originally found in Dachshund FreeMucopolysaccharidosis Type IIIA (MPSIIIA); mutation originally found in New Zealand Huntaway UnknownMucopolysaccharidosis Type VI (MPSVI); mutation originally found in Poodle UnknownHypocatalasia or Acatalasemia FreeMucopolysaccharidosis Type VII (MPS VII); mutation originally found in German Shepherd UnknownImerslund-Gräsbeck Syndrome (IGS) or Intestinal cobalamin malabsorbtion; mutation originally found in Beagle FreeImerslund-Gräsbeck Syndrome (IGS) or Intestinal cobalamin malabsorbtion; mutation originally found in Border Collie FreeMucopolysaccharidosis Type IIIA (MPS IIIA); mutation originally found in New Zealand Huntaway Unknown Blood disordersCanine Cyclic Neutropenia (Gray Collie Syndrome) FreeTrapped Neutrophil Syndrome (TNS) FreeVon Willebrand's Disease (vWD) Type III; mutation originally found in Kooikerhondje UnknownCanine Leukocyte Adhesion Deficiency (CLAD), type I UnknownMay-Hegglin Anomaly (MHA) FreeFactor IX Deficiency or Haemophilia B; mutation originally found in Lhasa Apso FreeFactor IX Deficiency or Haemophilia B, Gly379Glu mutation FreePyruvate Kinase Deficiency of Erythrocyte; mutation originally found in West Highland White Terrier FreeGlanzmann Thrombasthenia (GT), Type I; mutation originally found in Pyrenean Mountain Dog FreeGlycogen Storage Disease VII or Hereditary Phosphofructokinase (PFK) Deficiency FreeBleeding disorder due to P2RY12 defect FreeVon Willebrand's Disease (vWD) Type III; mutation originally found in Shetland Sheepdog UnknownFactor VII Deficiency FreeFactor VIII deficiency or Haemophilia A; mutation originally found in German Shepherd FreePyruvate Kinase Deficiency of Erythrocyte; mutation originally found in Labrador Retriever UnknownPyruvate Kinase Deficiency of Erythrocyte; mutation originally found in Pug FreePyruvate Kinase Deficiency of Erythrocyte; mutation originally found in Beagle FreeCanine Leucocyte Adhesion Deficiency (CLAD), type III Unknown

Page 3: CERTIFICATE Boerboel International Genetic Screening...CERTIFICATE ===== Name dog :Nordbornas Dan Owner :Sophie & Mats Freier & Carlsson ... Factor IX Deficiency or Haemophilia B;

Factor IX Deficiency or Haemophilia B; mutation originally found in Rhodesian Ridgeback UnknownFactor IX Deficiency or Haemophilia B; mutation originally found in Airedale Terrier FreeFactor IX Deficiency or Haemophilia B; mutation originally found in German Wirehaired Pointer UnknownPyruvate Kinase Deficiency of Erythrocyte; mutation originally found in Basenji UnknownPyruvate Kinase Deficiency of Erythrocyte; mutation originally found in West Highland White Terrier UnknownVon Willebrand's Disease (vWD) Type II FreeCongenital Macrothrombocytopenia; disease-linked SNP originally found in Norfolk and Cairn Terrier FreeThrombopathia; mutation originally found in Basset Hound UnknownThrombopathia; mutation originally found in Landseer UnknownThrombopathia; mutation originally found in Eskimo Spitz UnknownPrekallikrein Deficiency FreeElliptocytosis FreeFactor VIII deficiency or Haemophilia A; p.Cys548Tyr mutation originally found in German Shepherd FreeFactor VIII deficiency or Haemophilia A; mutation originally found in Boxer FreeVon Willebrand's Disease (vWD) Type III; mutation originally found in Scottish Terrier UnknownVon Willebrand's Disease (vWD) Type I UnknownCanine Scott Syndrome, (CSS) Free Kidney disordersAutosomal Recessive Hereditary Nephropathy (ARHN); mutation originally found in English Cocker Spaniel UnknownHyperuricosuria and Hyperuricemia (HUU) or Urolithiasis. Kidney disorder. FreePrimary hyperoxaluria (PH); mutation originally found in Coton de Tulear FreeX-linked Hereditary Nephropathy (XLHN) FreeAutosomal Recessive Hereditary Nephropathy (ARHN); mutation originally found in English Springer Spaniel UnknownPolycystic Kidney Disease (PKD) FreeCystinuria, Type II-B; mutation originally found in Miniature Pinscher UnknownRenal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND) FreeCystinuria; mutation originally found in Newfoundland Dog FreeCystinuria, Type II-A; mutation originally found in Australian Cattle Dog FreeProtein Losing Nephropathy; NPHS1 gene variant UnknownProtein Losing Nephropathy; KIRREL2 gene variant Unknown Other disordersMalignant Hyperthermia (MH) UnknownIvermectin sensitivity (MDR1) UnknownNarcolepsy; mutation originally found in Dobermann FreePrimary Ciliary Dyskinesia (PCD) FreeCongenital Keratoconjuctivitis Sicca and Ichthyosiform Dermatosis (CKCSID) or Dry Eye Curly Coat Syndrome FreeGallbladder Mucocele Formation UnknownPersistant Mullerian Duct Syndrome (PMDS), mutation originally found in Miniature Schnauzer FreeNarcolepsy; mutation originally found in Labrador Retriever FreeNarcolepsy; mutation originally found in Dachshund FreeAutosomal Recessive Amelogenesis Imperfecta (ARAI) FreeHereditary Nasal Parakeratosis (HNPK) UnknownCleft palate; mutation originally found in Nova Scotia Duck Tolling Retriever, reverse assay Free Muscular disordersMuscular Dystrophy, Duchenne type or Golden Retriever Muscular Dystrophy (GRMD) FreeMyotonia; mutation originally found in Miniature Schnauzer UnknownCavalier King Charles Spaniel Muscular Dystrophy (CKCS-MD) FreeDuchenne-like Muscular Dystrophy, Pembroke Welsh Corgi-type UnknownMyotubular Myopathy 1 or X-linked Myotubular Myopathy UnknownCentronuclear Myopathy; mutation originally found in Great Dane FreeMyotonia; mutation originally found in Australian Cattle Dog FreeCentronuclear Myopathy; mutation originally found in Labrador Retriever FreeCerebellar ataxia; mutation originally found in Old English Sheepdog and Gordon Setter FreeMuscular Hypertrophy (Double Muscling) FreeMuscular Dystrophy (MDL), Ullrich-type; mutation originally found in Landseer FreeDuchenne or Dystrophin Muscular Dystrophy, (DMD); mutation originally found in Norfolk Terrier Free Immunological disordersARSCID (Autosomal Recessive Severe Combined Immunodeficiency) UnknownX-linked Severe Combined Immunodeficiency (XSCID); mutation originally found in Basset Hound FreeX-linked Severe Combined Immunodeficiency (XSCID); mutation originally found in Cardigan Welsh Corgi FreeC3 deficiency FreeSevere Combined Immunodeficiency (SCID); mutation originally found in Frisian Water Dog FreeAutosomal Recessive Severe Combined Immunodeficiency (ARSCID) FreeMyeloperoxidase Deficiency Unknown Skeletal disordersOsteogenesis imperfecta (OI) or Brittle Bone Disease; mutation originally found in Dachshund FreeChondrodysplasia (dwarfism); mutation originally found in Norwegian Elkhound and Karelian Bear Dog Free

Page 4: CERTIFICATE Boerboel International Genetic Screening...CERTIFICATE ===== Name dog :Nordbornas Dan Owner :Sophie & Mats Freier & Carlsson ... Factor IX Deficiency or Haemophilia B;

Skeletal Dysplasia 2 (SD2) FreeCraniomandibular Osteopathy (CMO) FreeHereditary Vitamin D-Resistant Rickets (HVDRR) FreeOsteogenesis imperfecta; mutation originally found in Golden Retriever UnknownOculoskeletal Dysplasia 2 or Dwarfism-Retinal Dysplasia 2 UnknownOsteogenesis imperfecta; mutation originally found in Beagle FreeOsteochondrodysplasia, mutation originally found in Miniature Poodle FreeCleft Palate; Cleft Lip and Palate w ith Syndactyly; ADAMTS20 gene mutation originally found in Nova Scotia Duck Tolling RetrieverFreeSpondylocostal Dysostosis FreeVan den Ende-Gupta Syndrome, (VDEGS) Free Skin disordersGolden Retriever Ichtyosis UnknownAnhidrotic Ectodermal Dysplasia or X-linked Ectodermal Dysplasia (XHED) UnknownMusladin-Lueke syndrome (MLS) FreeLamellar Ichthyosis (LI) UnknownEpidermolysis bullosa, dystrophic FreeEpidermolytic Hyperkeratosis or Ichthyosis in Norfolk Terrier UnknownEctodermal dysplasia or Skin Fragility Syndrome (ED-SFS) UnknownLamellar Ichthyosis (LI) FreeAnhidrotic Ectodermal Dysplasia or X-linked Ectodermal Dysplasia (XHED) FreeHereditary Footpad Hyperkeratosis (HFH) FreeFocal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK/DH) UnknownLigneous Membranitis FreeIchthyosis; mutation originally found in Great Dane Free Cardiological disordersDilated Cardiomyopathy. DCM. Heart disorder. Free Endocrine disordersHypothyroidism; mutation originally found in Tenterfield Terrier UnknownHypothyroidism; mutation originally found in Toy Fox- and Rat Terrier Free Cardiac disordersLong QT Syndrome Unknown PharmacogeneticsGlucocorticoid receptor alpha (NR3C1) gene variant c.2111T>C Unknown Teeth disordersDental Hypomineralization; mutation originally found in Border Collie Free

Unknown: No results, can be upgraded or future new test.

For all your questions about DNA please send BI an email at [email protected]

Date printed: 26-10-2016

Sonia Morgan, Chairperson