====================================== Boerboel International Genetic Screening C ER T IFIC AT E ====================================== Name dog : Nordbornas Freja Owner : Sophie & Mats Freier & Carlsson Registrationnumber : 201700186 Address : Trälket 11 MicroChipnumber : 941000018682767 Tow n : Töreboda Date of birth : 16-02-2017 Country : Sw eden Gender : Female B.I.G.S. (Boerboel International Genetic Screening) results found in the Boerboel breed: Disorder Neurological disorders L-2-Hydroxyglutaric aciduria (L2HGA); mutation 1 L-2-Hydroxyglutaric aciduria (L2HGA); mutation 2 originally found in Staffordshire Bull Terrier Neonatal Encephalopathy w ith Seizures (NEW S) Cerebellar abiotrophy or neonatal cerebellar cortical degeneration (NCCD) Polyneuropathy; mutation originally found in Alaskan Malamute Bandera's Neonatal Ataxia (BNAt) Progressive early-onset cerebellar ataxia; mutation originally found in Finnish Hound Benign Familial Juvenile Epilepsy or Remitting Focal Epilepsy Polyneuropathy; mutation originally found in Greyhound Neuronal Ceroid Lipofuscinosis 1 (NCL1) Neuronal Ceroid Lipofuscinosis, type 12, mutation originally found in Tibetan terrier Neuronal Ceroid Lipofuscinosis 10 (NCL10) Neuronal Ceroid Lipofuscinosis 2 (NCL2) Neuronal Ceroid Lipofuscinosis 4A (NCL4) Neuronal Ceroid Lipofuscinosis 5 (NCL5) Neuronal Ceroid Lipofuscinosis 6 (NCL6) Fetal-onset Neuroaxonal Dystrophy (FNAD) L-2-hydroxyglutaric Aciduria (L2HGA), Yorkshire Terrier mutation Bandera's Neonatal Ataxia (BNAt) Alaskan Husky Encephalopathy (AHE) Neuronal Ceroid Lipofuscinosis 8 (NCL8) Neuronal Ceroid Lipofuscinosis 8 (NCL8), rare variant Spinocerebellar ataksia (SCA); mutation originally found in Parson Russell Terrier Shaking Puppy (X-linked Generalized Tremor); mutation originally found in English Springer Spaniel Hypomyelination and Tremor; mutation originally found in Weimaraner Lagotto Storage Disease Spinocerebellar ataxia w ith myokymia and/or seizures Spinal Dysraphism Dandy-Walker-Like Malformation (DW LM); mutation originally found in Eurasier Neuronal Ceroid Lipofuscinosis, (NCL7); mutation originally found in Chinese Crested Dog and Chihuahua Cerebral Dysfunction; mutation originally found in Friesian Stabyhoun Neuroaxonal Dystrophy (NAD); mutation originally found in Spanish Water Dog Neuronal Ceroid Lipofuscinosis 8, (NCL8); mutation originally found in Alpine Dachsbracke Paroxysmal Dyskinesia, (PxD); mutation originally found in Irish Soft Coated Wheaten Terrier Cerebellar Cortical Degeneration, (CCD); mutation originally found in Vizsla Polyneuropathy w ith ocular abnormalities and neuronal vacuolation (POANV) Juvenile Myoclonic Epilepsy, (JME); mutation originally found in Rhodesian Ridgeback Spongy degeneration w ith cerebellar ataxia, (SDCA1); mutation originally found in Belgian Shepherd Sensory Neuropathy; mutation originally found in Border Collie Alexander Disease (AxD); mutation originally found in Labrador Retriever Eye disorders Canine Multifocal Retinopathy 1 (CMR1), Eye disorder. Collie Eye Anomaly (CEA) Cone-rod Dystrophy 1 (cord1-pra) Congenital Stationary Night Blindness (CSNB) Autosomal Dominant Progressive Retinal Atrophy (ADPRA) Result Carrier
Golden Retriever Progressive Retinal Atrophy 1 (GR_PRA 1) Primary Hereditary Cataract (PHC); mutation originally found in Australian Shepherd Primary Lens Luxation (PLL) 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 1 (XLPRA1) Cone-rod dystrophy (crd SW D); mutation originally found in Standard Wire-haired Dachshund Primary Open Angle Glaucoma; mutation originally found in Beagle Achromatopsia or Cone Degeneration (CD); mutation originally found in German Shorthaired Pointer OSD2 (Oculoskeletal Dysplasia 2) or DRD2 (Dw arfism-retinal Dysplasia 2) Canine Multifocal Retinopathy 3 (cmr3); mutation originally found in Lapponian Herder Canine Multifocal Retinopathy 2 (cmr2); mutation originally found in Coton de Tulear Generalized Progressive Retinal Atrophy; mutation originally found in Schapendoes Golden Retriever Progressive Retinal Atrophy 2 (GR_PRA 2) Early Retinal Degeneration; mutation originally found in Norw egian Elkhound Primary Hereditary Cataract (PHC); mutation originally found in Terriers Progressive Retinal Atrophy (PAP1_PRA); mutation originally found in Papillon and Phalene Progressive Retinal Atrophy - adult onset; mutation originally found in Basenji Progressive Retinal Atrophy (PRA), type III; mutation originally found in Tibetan Spaniel and Tibetan Terrier Cone-Rod Dystrophy 2 (crd2); mutation originally found in Pit Bull Terrier Glaucoma; mutation originally found in Norw egian Elkhound PRA Progressive Retinal Atrophy; Sw edish Vallhund marker test X-Linked Progressive Retinal Atrophy 2 (XLPRA2) Achromatopsia or Cone Degeneration (CD); CNGB3 gene deletion Cone-Rod Dystrophy 1 (crd1); mutation originally found in American Staffordshire Terrier Progressive Retinal Atrophy, (CNGA1-PRA); mutation originally found in Shetland Sheepdog Primary Open Angle Glaucoma; mutation originally found in Basset Fauve de Bretagne Progressive Retinal Atrophy; mutation originally found in Sw edish Vallhund Primary lens luxation (PLL) and glaucoma; mutation originally found in Shar Pei Primary Open Angle Glaucoma (POAG); mutation originally found in Petit Basset Griffon Vendeen Neuromuscular disorders Degenerative Myelopathy (DM) Exercise-Induced Collapse (EIC) Globoid Cell Leukodystrophy (GLD) or Krabbe's disease, Terrier mutation Alpha Fucosidosis Globoid Cell Leukodystrophy (GLD) or Krabbe's disease; mutation originally found in Irish Setter GM1 Gangliosidosis; mutation originally found in Portuguese Water Dog GM1 Gangliosidosis; mutation originally found in Alaskan Husky GM1 Gangliosidosis; mutation originally found in Shiba Dog Episodic falling (EF) GM2 Gangliosidosis Hyperekplexia or Startle Disease GM2 Gangliosidosis, mutation originally found in Japanese Chin Congenital Myasthenic Syndrome (CMS) Globoid Cell Leukodystrophy (GLD) or Krabbe's disease; mutation originally found in Irish Setter Congenital Myasthenic Syndrome, (CMS); mutation originally found in Jack Russell Terrier Congenital Myasthenic Syndrome (CMS); mutation originally found in Labrador Retriever Metabolic disorders Glycogen Storage Disease, type IIIa (GSDIIIa) Mucopolysaccharidosis Type VII (MPSVII); mutation originally found in Brazilian Terrier Pyruvate Dehydrogenase Deficiency Glycogen Storage Disease, type II or Pompe's disease Glycogen Storage Disease, Type Ia (GSDIa) Mucopolysaccharidosis Type I (MPSI) Mucopolysaccharidosis Type IIIA (MPSIIIA); mutation originally found in Dachshund Mucopolysaccharidosis Type IIIA (MPSIIIA); mutation originally found in New Zealand Huntaw ay Mucopolysaccharidosis Type VI (MPSVI); mutation originally found in Poodle Hypocatalasia or Acatalasemia Mucopolysaccharidosis Type VII (MPS VII); mutation originally found in German Shepherd Imerslund-Gräsbeck Syndrome (IGS) or Intestinal cobalamin malabsorbtion; mutation originally found in Beagle Imerslund-Gräsbeck Syndrome (IGS) or Intestinal cobalamin malabsorbtion; mutation originally found in Border Collie Mucopolysaccharidosis Type IIIA (MPS IIIA); mutation originally found in New Zealand Huntaw ay Blood disorders Canine Cyclic Neutropenia (Gray Collie Syndrome) Trapped Neutrophil Syndrome (TNS) Von Willebrand's Disease (vw D) Type III; mutation originally found in Kooikerhondje Canine Leukocyte Adhesion Deficiency (CLAD), type I May-Hegglin Anomaly (MHA)
Factor IX Deficiency or Haemophilia B; mutation originally found in Lhasa Apso Factor IX Deficiency or Haemophilia B, Gly379Glu mutation Pyruvate Kinase Deficiency of Erythrocyte; mutation originally found in West Highland White Terrier Glanzmann Thrombasthenia (GT), Type I; mutation originally found in Pyrenean Mountain Dog Glycogen Storage Disease VII or Hereditary Phosphofructokinase (PFK) Deficiency Bleeding disorder due to P2RY12 defect Von Willebrand's Disease (vw D) Type III; mutation originally found in Shetland Sheepdog Factor VII Deficiency Factor VIII deficiency or Haemophilia A; mutation originally found in German Shepherd Pyruvate Kinase Deficiency of Erythrocyte; mutation originally found in Labrador Retriever Pyruvate Kinase Deficiency of Erythrocyte; mutation originally found in Pug Pyruvate Kinase Deficiency of Erythrocyte; mutation originally found in Beagle Canine Leucocyte Adhesion Deficiency (CLAD), type III Factor IX Deficiency or Haemophilia B; mutation originally found in Rhodesian Ridgeback Factor IX Deficiency or Haemophilia B; mutation originally found in Airedale Terrier Factor IX Deficiency or Haemophilia B; mutation originally found in German Wirehaired Pointer Pyruvate Kinase Deficiency of Erythrocyte; mutation originally found in Basenji Pyruvate Kinase Deficiency of Erythrocyte; mutation originally found in West Highland White Terrier Von Willebrand's Disease (vw D) Type II Congenital Macrothrombocytopenia; disease-linked SNP originally found in Norfolk and Cairn Terrier Thrombopathia; mutation originally found in Basset Hound Thrombopathia; mutation originally found in Landseer Thrombopathia; mutation originally found in Eskimo Spitz Prekallikrein Deficiency Elliptocytosis Factor VIII deficiency or Haemophilia A; p.cys548tyr mutation originally found in German Shepherd Factor VIII deficiency or Haemophilia A; mutation originally found in Boxer Von Willebrand's Disease (vw D) Type III; mutation originally found in Scottish Terrier Von Willebrand's Disease (vw D) Type I Canine Scott Syndrome, (CSS) Kidney disorders Autosomal Recessive Hereditary Nephropathy (ARHN); mutation originally found in English Cocker Spaniel Hyperuricosuria and Hyperuricemia (HUU) or Urolithiasis. Kidney disorder. Primary hyperoxaluria (PH); mutation originally found in Coton de Tulear X-linked Hereditary Nephropathy (XLHN) Autosomal Recessive Hereditary Nephropathy (ARHN); mutation originally found in English Springer Spaniel Polycystic Kidney Disease (PKD) Cystinuria, Type II-B; mutation originally found in Miniature Pinscher Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND) Cystinuria; mutation originally found in New foundland Dog Cystinuria, Type II-A; mutation originally found in Australian Cattle Dog Protein Losing Nephropathy; NPHS1 gene variant Protein Losing Nephropathy; KIRREL2 gene variant Other disorders Malignant Hyperthermia (MH) Ivermectin sensitivity (MDR1) Narcolepsy; mutation originally found in Dobermann Primary Ciliary Dyskinesia (PCD) Congenital Keratoconjuctivitis Sicca and Ichthyosiform Dermatosis (CKCSID) or Dry Eye Curly Coat Syndrome Gallbladder Mucocele Formation Persistant Mullerian Duct Syndrome (PMDS), mutation originally found in Miniature Schnauzer Narcolepsy; mutation originally found in Labrador Retriever Narcolepsy; mutation originally found in Dachshund Autosomal Recessive Amelogenesis Imperfecta (ARAI) Hereditary Nasal Parakeratosis (HNPK) Cleft palate; mutation originally found in Nova Scotia Duck Tolling Retriever, reverse assay Acute Respiratory Distress Syndrome, (ARDS); mutation originally found in Dalmatian Xanthinuria, Type 2a; mutation originally found in Toy Manchester Terrier Xanthinuria, Type 2b; originally found in Cavalier King Charles Spaniel and English Cocker Spaniel Xanthinuria, Type 1a; mutation originally found in mixed breed dogs Muscular disorders Muscular Dystrophy, Duchenne type or Golden Retriever Muscular Dystrophy (GRMD) Myotonia; mutation originally found in Miniature Schnauzer Cavalier King Charles Spaniel Muscular Dystrophy (CKCS-MD) Duchenne-like Muscular Dystrophy, Pembroke Welsh Corgi-type Myotubular Myopathy 1 or X-linked Myotubular Myopathy Centronuclear Myopathy; mutation originally found in Great Dane Myotonia; mutation originally found in Australian Cattle Dog Centronuclear Myopathy; mutation originally found in Labrador Retriever
Cerebellar ataxia; mutation originally found in Old English Sheepdog and Gordon Setter Muscular Hypertrophy (Double Muscling) Muscular Dystrophy (MDL), Ullrich-type; mutation originally found in Landseer Duchenne or Dystrophin Muscular Dystrophy, (DMD); mutation originally found in Norfolk Terrier Nemaline Myopathy; mutation originally found in American Bulldog Immunological disorders ARSCID (Autosomal Recessive Severe Combined Immunodeficiency) 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 C3 deficiency Severe Combined Immunodeficiency (SCID); mutation originally found in Frisian Water Dog Autosomal Recessive Severe Combined Immunodeficiency (ARSCID) Myeloperoxidase Deficiency Skeletal disorders Osteogenesis imperfecta (OI) or Brittle Bone Disease; mutation originally found in Dachshund Chondrodysplasia (dw arfism); mutation originally found in Norw egian Elkhound and Karelian Bear Dog Skeletal Dysplasia 2 (SD2) Craniomandibular Osteopathy (CMO) Hereditary Vitamin D-Resistant Rickets (HVDRR) Osteogenesis imperfecta; mutation originally found in Golden Retriever Oculoskeletal Dysplasia 2 or Dw arfism-retinal Dysplasia 2 Osteogenesis imperfecta; mutation originally found in Beagle Osteochondrodysplasia, mutation originally found in Miniature Poodle Cleft Palate; Cleft Lip and Palate w ith Syndactyly; ADAMTS20 gene mutation originally found in Nova Scotia Duck Tolling Retrie Spondylocostal Dysostosis Van den Ende-Gupta Syndrome, (VDEGS) Skin disorders Golden Retriever Ichtyosis Anhidrotic Ectodermal Dysplasia or X-linked Ectodermal Dysplasia (XHED) Musladin-Lueke syndrome (MLS) Lamellar Ichthyosis (LI) Epidermolysis bullosa, dystrophic Epidermolytic Hyperkeratosis or Ichthyosis in Norfolk Terrier Ectodermal dysplasia or Skin Fragility Syndrome (ED-SFS) Lamellar Ichthyosis (LI) Anhidrotic Ectodermal Dysplasia or X-linked Ectodermal Dysplasia (XHED) Hereditary Footpad Hyperkeratosis (HFH) Focal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK/DH) Ligneous Membranitis Ichthyosis; mutation originally found in Great Dane Ichthyosis; mutation originally found in American Bulldog Cardiological disorders Dilated Cardiomyopathy. DCM. Heart disorder. Endocrine disorders Hypothyroidism; mutation originally found in Tenterfield Terrier Hypothyroidism; mutation originally found in Toy Fox- and Rat Terrier Cardiac disorders Long QT Syndrome Dilated Cardiomyopathy, (DCM); mutation originally found in Schnauzer Pharmacogenetics Glucocorticoid receptor alpha (NR3C1) gene variant c.2111t>c Teeth disorders Dental Hypomineralization; mutation originally found in Border Collie 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