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

CER T IFICAT E======================================

Name dog : Nordbornas Freja Owner : Sophie & Mats Freier & CarlssonRegistrationnumber : 201700186 Address : Trälket 11

MicroChipnumber : 941000018682767 Town : TörebodaDate of birth : 16-02-2017 Country : Sweden

Gender : Female 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 UnknownNeuronal Ceroid Lipofuscinosis 10 (NCL10) FreeNeuronal Ceroid Lipofuscinosis 2 (NCL2) UnknownNeuronal Ceroid Lipofuscinosis 4A (NCL4) UnknownNeuronal Ceroid Lipofuscinosis 5 (NCL5) FreeNeuronal 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 FreeSpinocerebellar 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 FreeNeuronal Ceroid Lipofuscinosis 8, (NCL8); mutation originally found in Alpine Dachsbracke FreeParoxysmal Dyskinesia, (PxD); mutation originally found in Irish Soft Coated Wheaten Terrier FreeCerebellar Cortical Degeneration, (CCD); mutation originally found in Vizsla FreePolyneuropathy w ith ocular abnormalities and neuronal vacuolation (POANV) FreeJuvenile Myoclonic Epilepsy, (JME); mutation originally found in Rhodesian Ridgeback FreeSpongy degeneration w ith cerebellar ataxia, (SDCA1); mutation originally found in Belgian Shepherd FreeSensory Neuropathy; mutation originally found in Border Collie FreeAlexander Disease (AxD); mutation originally found in Labrador Retriever Free Eye disordersCanine Multifocal Retinopathy 1 (CMR1), Eye disorder. CarrierCollie Eye Anomaly (CEA) UnknownCone-rod Dystrophy 1 (cord1-PRA) FreeCongenital Stationary Night Blindness (CSNB) FreeAutosomal Dominant Progressive Retinal Atrophy (ADPRA) Free

Golden Retriever Progressive Retinal Atrophy 1 (GR_PRA 1) FreePrimary 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 FreePrimary 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 FreeGolden 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 UnknownX-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 FreePrimary Open Angle Glaucoma; mutation originally found in Basset Fauve de Bretagne FreeProgressive Retinal Atrophy; mutation originally found in Swedish Vallhund FreePrimary lens luxation (PLL) and glaucoma; mutation originally found in Shar Pei FreePrimary Open Angle Glaucoma (POAG); mutation originally found in Petit Basset Griffon Vendeen 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 FreeGM1 Gangliosidosis; mutation originally found in Alaskan Husky FreeGM1 Gangliosidosis; mutation originally found in Shiba Dog FreeEpisodic 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 FreeCongenital Myasthenic Syndrome (CMS); mutation originally found in Labrador Retriever Free 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 UnknownGlycogen Storage Disease, Type Ia (GSDIa) FreeMucopolysaccharidosis 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 FreeImerslund-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 Free Blood disordersCanine Cyclic Neutropenia (Gray Collie Syndrome) FreeTrapped Neutrophil Syndrome (TNS) FreeVon Willebrand's Disease (vWD) Type III; mutation originally found in Kooikerhondje FreeCanine Leukocyte Adhesion Deficiency (CLAD), type I UnknownMay-Hegglin Anomaly (MHA) Free

Factor 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 FreeFactor 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 FreeFactor 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 FreePyruvate Kinase Deficiency of Erythrocyte; mutation originally found in Basenji FreePyruvate 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 FreeThrombopathia; mutation originally found in Landseer FreeThrombopathia; mutation originally found in Eskimo Spitz FreePrekallikrein 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 FreeVon Willebrand's Disease (vWD) Type I FreeCanine 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 FreeRenal 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 FreeProtein Losing Nephropathy; KIRREL2 gene variant Unknown Other disordersMalignant Hyperthermia (MH) FreeIvermectin 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 UnknownGallbladder 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 FreeAcute Respiratory Distress Syndrome, (ARDS); mutation originally found in Dalmatian FreeXanthinuria, Type 2a; mutation originally found in Toy Manchester Terrier FreeXanthinuria, Type 2b; originally found in Cavalier King Charles Spaniel and English Cocker Spaniel FreeXanthinuria, Type 1a; mutation originally found in mixed breed dogs Free Muscular disordersMuscular Dystrophy, Duchenne type or Golden Retriever Muscular Dystrophy (GRMD) FreeMyotonia; mutation originally found in Miniature Schnauzer FreeCavalier King Charles Spaniel Muscular Dystrophy (CKCS-MD) FreeDuchenne-like Muscular Dystrophy, Pembroke Welsh Corgi-type UnknownMyotubular Myopathy 1 or X-linked Myotubular Myopathy FreeCentronuclear Myopathy; mutation originally found in Great Dane FreeMyotonia; mutation originally found in Australian Cattle Dog FreeCentronuclear Myopathy; mutation originally found in Labrador Retriever Free

Cerebellar 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 FreeNemaline Myopathy; mutation originally found in American Bulldog 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 Free 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 FreeSkeletal 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 FreeOsteogenesis 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) UnknownLamellar Ichthyosis (LI) UnknownEpidermolysis bullosa, dystrophic FreeEpidermolytic Hyperkeratosis or Ichthyosis in Norfolk Terrier FreeEctodermal 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) FreeLigneous Membranitis FreeIchthyosis; mutation originally found in Great Dane FreeIchthyosis; mutation originally found in American Bulldog Free Cardiological disordersDilated Cardiomyopathy. DCM. Heart disorder. Free Endocrine disordersHypothyroidism; mutation originally found in Tenterfield Terrier FreeHypothyroidism; mutation originally found in Toy Fox- and Rat Terrier Free Cardiac disordersLong QT Syndrome FreeDilated Cardiomyopathy, (DCM); mutation originally found in Schnauzer Free 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 office@boerboelinternational.eu

Date printed: 29-12-2017

Sonia Morgan, Chairperson