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Copper storage disease - Copper toxicosis (CT) *

Test number: 8388

CT

Breeds
Doberman , Labrador Retriever .
Trait of Inheritance

  • ATP7B: autosomal dominant with incomplete penetrance.
  • ATP7A: X-chromosomal dominant with incomplete penetrance.

Inheritance : AUTOSOMAL trait
Description

Copper homeostasis is (among other factors) regulated by the uptake of copper in the small intestine and the excretion of surplus copper via the biliary tract. In the breeds Labrador Retriever and Dobermann, dogs with copper toxicosis have a decreased ability to excrete copper resulting in excessive copper storage in the liver and other organs, leading to liver damage and cirrhosis. The disease is known to have a relatively late onset (middle aged or older dogs) with variable symptoms like weight loss, lethargy, weakness, vomiting, diarrhea, abdominal pain and neurological dysfunction.

A variant in the gene of the copper-transporting ATPase ATP7B is associated with an increased hepatic copper level and is inherited in an autosomal dominant mode with incomplete penetrance. This means that dogs with one copy of the variant (N/ATP7B) have an increased risk for developing copper toxicosis while dogs with two copies (ATP7B/ATP7B) have an even higher risk for the disease. Since there are multiple genetic and environmental factors causing copper toxicosis in dogs, a dog without any ATP7B variant is not excluded to suffer from copper toxicosis and there are also dogs with two copies of the ATP7B variant that do not show symptoms of copper toxicosis during lifetime. Dogs inheriting the ATP7B variant are recommended to be mated with dogs without any ATP7B variant.

A variant in the ATP7A gene (copper toxicosis modifier) is known to decrease the risk for copper toxicosis in Labrador Retrievers with one or two copies of the ATP7B variant by minimalizing the excessive accumulation of copper in the liver. Since this variant is inherited in an X-linked incomplete dominant manner, female dogs with one ATP7A (protective) variant and one normal (non-protective) ATP7A allele have a higher risk for copper toxicosis than male dogs which only need to inherit one copy of the (protective) ATP7A variant. This is the reason why female dogs are more commonly diagnosed with the disease than male dogs. In Dobermanns, the ATP7A variant has been identified, too, but until now, there is no relationship proven between the ATP7A variant and hepatic copper concentrations in this breed.

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. .
Turnaround
1-2 weeks
Price
£ 48.00 (including VAT)

To order:

  • Download Order Form from this link pdf

  • Complete the order form and send it together with your samples to the following address:

    Laboklin (UK),   125 Northenden Road, Manchester, M33 3HF

See Also:
Copper Toxicosis (Copper Storage Disease )  
Progressive Retinal Atrophy (Dominant PRA)  
Globoid Cell Leukodystrophy (Krabbe Disease)  
CSNB (Congenital Stationary Night Blindness)  
CLAD (Canine Leukocyte Adhesion Deficiency)  
Cystinuria  
von Willebrand disease Type II (vWD II)  
PK Deficiency (Pyruvate Kinase Deficiency)  
Fucosidosis  
PFK Deficiency (Phosphofructokinase deficiency)  
Myotonia Congenita  
MH (Malignant Hyperthermia)  
X-Linked Severe Combined Immunodeficiency (X-SCID)  
GM1-Gangliosidosis  
Narcolepsy  
Muscular Dystrophy (MD)  
MPS ( Mucopolysaccharidosis type VII)  
Hereditary Myopathy / Centronuclear Myopathy (HMLR, CNM)  
Canine Cyclic Neutropenia (Gray Collie Syndrome)  
Progressive Retinal Atrophy (cord1- PRA / crd4 PRA)  
L-2-HGA ( L- 2 - hydroxyglutaric aciduria )  
von Willebrand disease Type I (vWD I)  
von Willebrand disease Type III (vWD III)  
Neuronal Ceroid Lipofuscinosis ( CL / NCL )  
Trapped Neutrophil Syndrome ( TNS )  
Progressive Retinal Atrophy (crd PRA)  
PDP 1 Deficiency (Pyruvate Dehydrogenase Phosphatase 1 Deficiency)  
Factor VII Deficiency  
Progressive Retinal Atrophy (rcd1 PRA)  
Progressive Retinal Atrophy (rcd1a PRA)  
Juvenile Brain Disease ( JBD ) / Juvenile Encephalopathy ( Epilepsy )  
Microphthalmia ( RBP4 )  
French Bulldog DNA bundle  
Leonberger DNA bundle  
Spanish Water Dog DNA bundle  
Lethal Acrodematitis ( LAD )  
BRAF Mutation ( transitional cell carcinoma )  
MDR1 Gene Varian / Ivermectin Sensitivity *  
Exercise Induced Collapse ( EIC )  
Dwarfism (Pituitary Dwarfism / Hypopituitarism)  
Degenerative Myelopathy / Degenerative Radiculomyelopathy) DM (Exon 2)  
Greyhound Neuropathy (Hereditary Neuropathy)  
Brittle Bone Disease (Osteogenesis Imperfecta)  
Glycogen Storage Disease (GSDllla)  
Hereditary Cataract (HSF4)  
Neonatal encephalopathy (NE / NEWS)  
Haemophilia B (factor IX deficiency)  
JEB (Junctional Epidermolysis bullosa)  
Primary Lens Luxation (PLL)  
Brachyury (Bobtail Gene / Short Tail)  
Familial Nephropathy (FN) / Hereditary Nephropathy *  
Startle Disease (SD) / Hyperekplexia  
Familial Nephropathy (FN) / Hereditary Nephropathy  
Myostatin Mutation ("Bully" Whippet)/ Double Muscling  
Hereditary Nephritis / Samoyed Hereditary Glomerulopathy  
Episodic Falling in Cavalier King Charles Spaniel (EF)  
Dry Eye and Curly Coat syndrome (CCS)  
CKCS Pack A: Episodic Falling + Dry Eye Curly Coat syndrome  
Haemophilia A (factor VIII deficiency)  
Congenital Hypothyreosis / hypothyroidism ( CHG )  
Hereditary Nasal Parakeratosis (HNPK)  
Juvenile Epilepsy (JE)  
Musladin-Lueke syndrome (MLS)  
Ichthyosis *  
Neonatal Cortical Cerebellar Abiotrophy (NCCD)  
Dwarfism (Skeletal Dysplasia 2 / SD2 )  
Primary Open Angle Glaucoma (POAG)  
Progressive Retinal Atrophy (generalized PRA)  
Progressive Retinal Atrophy (GR-PRA1)  
Progressive retinal atrophy ( rcd4-PRA) / LOPRA  
Alaskan Malamute Polyneuropathy (AMPN / IPAM / HPAM)  
Pug Dog Encephalitis (PDE) / Necrotizing Meningoencephalitis (NME)  
Polycystic Kidney Disease (PKD)  
Pompe's Disease (Glycogen Storage Disease type II / GSDII)  
Primary ciliary dyskinesia (PCD)  
Protein Losing Nephropathy (PLN)  
Late Onset Ataxia (LOA)  
Cobalamin Malabsorption (Imerslund-Gräsbeck syndrome (IGS))  
Spinocerebellar ataxia (SCA)  
Cystinuria (Dominant)  
pap-PRA1 (Progressive Retinal Atrophy)  
Progressive Retinal Atrophy (BAS PRA)  
CMSD (Canine Multiple System Degeneration)  
Hereditary Cataract (HSF4) *  
Special offer 4: Juvenile Epilepsy + Furnishing + LSD  
Progressive Retinal Atrophy (prcd-PRA): (8094P / 8127)  
Thrombopathia (Thrombopathy)  
Digital Hyperkeratosis (DH) (Hereditary Footpad Hyperkeratosis / Corny Feet)  
Degenerative Myelopathy / degenerative radiculomyelopathy) DM (Exon 1)  
Degenerative Myelopathy / degenerative radiculomyelopathy) DM (Exon 1 + Exon 2)  
Ectodermal Dysplasia / Skin Fragility Syndrome (ED / SFS)  
Hypomyelination (Shaking Puppy Syndrome) SPS  
JRT and PRT Pack A: Late Onset Ataxia (LOA) + Spinocerebellar Attaxia (SCA)  
JRT and PRT Pack B:Late Onset Ataxia (LOA) + Spinocerebellar Attaxia (SCA) + PLL + JBD  
Leonberger Polyneuropathy 1 ( LPN1)  
Hereditary Ataxia (HA)  
Finnish Hound Ataxia / Cerebellar Ataxia (FHA / CAFH)  
Dandy-Walker-Like Malformation (DWLM)  
Persistent Müllerian duct syndrome (PMDS)  
Cone Degeneration (CD) by OptiGen *  
Fanconi Syndrome (FS)  
Lagotto Storage Disease (LSD)  
Juvenile Laryngeal Paralysis & Polyneuropathy (JLPP)  
Progressive Retinal Atrophy (CNGA1 PRA)  
Achromatopsia (day blindness) / ACHM  
Progressive Retinal Atrophy (GR-PRA2)  
Unspecified test  
Postoperative Hemorrhage (P2Y12 / P2RY12)  
Glanzmann Thrombasthenia (Thrombasthenia, Thrombasthenic thrombopathia, GT)  
Prekallikrein Deficiency (KTK) / Fletcher Factor Deficiency  
C3 Deficiency (Complement Component 3 deficiency)  
Congenital Myasthenic Syndrome (CMS)  
Bardet Biedl Syndrome (BBS)  
GM2 Gangliosidosis Variant 0 (Sandhoff Disease)  
Macrothrombocytopenia ( MTC-D )  
Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND)  
Vitamin D-dependent Rickets (HVDRR)  
Amelogenesis Imperfecta (AI) / Familial Enamel Hypoplasia (FEH)  
X-linked Myotubular Myopathy (XLMTM)  
Collie Eye Anomaly (CEA) / Choroidal Hypoplasia (CH) *  
Macrothrombocytopenia ( MTC- R )  
Muscular Dystrophy (MDL)  
Mucopolysaccharidosis type IIIa (MPS IIIA)  
Neuroaxonal Dystrophy ( NAD )  
Progressive Retinal Atrophy (rcd2-PRA) by Laboklin  
Ichthyosis ( Epidermolytic Hyperkeratosis (EHK) )  
May-Hegglin Anomaly (MHA)  
Alaskan Husky Encephalopathy (AHE)  
Cerebral Dysfunction (CDF)  
Dwarfism ( Chondrodysplasia / disproportinate short-limbed )  
Ichthyosis (Congenital Ichthyosis / Great Dane Ichthyosis)  
Hemorrhagic Diathesis / Bleeding Diathesis (Canine Scott Syndrom)  
Glycogen storage disease type Ia (GSD Ia) / VON Grieke Disease  
Gallbladder Mucoceles  
Primary Hyperoxaluria type I (PH I)  
Hyperuricosuria / Urate Stones (HUU, SLC)  
Severe Combined Immunodeficiency (SCID)  
Leukocyte Adhesion Deficiency type III (LAD III)  
Cleft Lip / Palate and Syndactyly (CLPS)  
Progressive Retinal Atrophy (crd1 PRA)  
Progressive Retinal Atrophy (CRD2 PRA)  
Spondylocostal Dysostosis (Comma Defect)  
Canine Multi-Focal Retinopathy (CMR)  
Craniomandibular Osteopathy (CMO)  
Retinal Dysplasia (RD) / Oculo Skeletal Dysplasia (OSD)*  
Special Offer: DM (Exon 2) + MDR1  
Special Offer Chinese Crested: PLL + prcd PRA + rcd3 PRA + DM Exon 2  
Warbung Micro Syndrome 1 (WARBM1)  
Raine Syndrome  
van den Ende-Gupta Syndrom (VDEGS)  
Lundehund-Syndrome ( Lymphagetasia )  
Obesity / Adiposity ( ADI )  
Alexander Disease (AxD) / Leukodystrophy  
Spinal Dysraphism / Neural Tube Defects ( NTD )  
Spongy Degeneration with Cerebellar Ataxia ( SDCA1 )  
XL - PRA (Progressive retinal Atrophy)  
Nemaline Myopathy (NM)  
Beagle DNA Bundle : IGS + Factor VII + MLS + NCCD + Osteogenesis imperfecta + PK + POAG  
Poodle DNA Bundle: DM exon2 + rcd4 PRA + NE + prcd-PRA + vWD1  
Golden Retriever DNA bundle: GR-PRA1 + GR-PRA2 + Ichthyosis + prcd-PRA + Muscular Dystrophy (MD) + NCL  
Pug Special Offer: DM Exon2 + MH + PDE / NME + PK + PLL  
Aussie DNA bundle: CEA * + DM exon2 + HSF4 + MDR1 + Brachyury + NCL + prcd-PRA *  
Collie DNA Bundle: CEA + DM exon2 + IPD + MDR1 + rcd2-PRA  
Border Collie DNA Bundle: CEA + IGS + MDR1 + Raine + SN + NCL + TNS + GGD  
Pack A: CNM + DM exon2 + EIC + HNPK + OSD + prcd-PRA + SD2  
Pack B: AxD + Cystinuria + Narcolepsy + Obesity + PK + SLC + XL-MTM  
Ichthyosis  
Catalase Deficiency ( CAT ) / Hypocatalasemia / Acatalasia  
Juvenile Myoclonic Epilepsy ( JME )  
Paroxysmal Dyskinesia ( PxD )  
Spongy Degeneration with Cerebellar Ataxia ( SDCA2 )  
Belgian Shepherd Special Offer : SDCA1 + SDCA2  
Sensory Neuropathy ( SN )  
Acute Respiratory Distress Syndrome ( ARDS )  
POAG / PLL Primary Open Angle Glaucoma (POAG) and Primary Lens Luxation (PLL)  
Shar Pei auto-inflammatory disease (SPAID)  
Dystrophic Epidermolysis Bullosa (DEB)  
Doberman DNA bundle (DM2 + vWDI + Narcolepsy + B Locus + D Locus)  
Landseer DNA bundle (Cystinuria + DM2 + D-Locus (D1) + MD + Thrombopathia)  
Rhodesian Ridgeback DNA Bundle (DM2 + Haemophilia B + B Locus + JME + D Locus)  
Rottweiler DNA bundle ( DM2 , LEMP , JLPP , CL1 , XL - MTM )  
Leonberger Polyneuropathy 2 ( LPN2 )  
Hereditary Nasal Parakeratosis (HNPK)  
Subacute Necrotizing Encephalopathy (SNE)  
ISDS Exclusive Border Collie DNA Bundle: CEA 1* + IGS + SN + TNS  
Acral Mutilation Syndrome ( AMS )  
Lafora Disease (LAF / LD) / Myoclonic Epilepsy  
Shetland DNA Bundle: CEA + DM Exon 2 + vWD Type III + MDR1 + CNGA1-PRA  
CKCS Pack B: DM Exon2 + Episodic Falling + DryEye + MD + MTC  
Progressive Retinal Atrophy (rcd3 PRA)  
Old English Sheepdog (Bobtail) DNA bundle: DM Exon2 + EIC + HA + MDR1 + PCD  
German Shepherd and Wolfdog DNA Bundle  
Glaucoma and Goniodysgenesis (GGD)  
Leukoencephalomyelopathy ( LEMP )  
Hereditary Deafness ( PTPRQ )  
Type B PRA * (Optigen)  
Neuronal Ceroid Lipofuscinosis Combi in ACD & AUSSIE ( NCL Combi )  
Chondrodystrophy (CDDY with IVDD Risk) and Chondrodysplasia (CDPA)  
Mycobacterium Avium Complex ( MAC ) sensitivity  
Australian Cattle Dog bundle (DM Exon2 + NCL + PLL + prcd-PRA (partnerlab) + rcd4-PRA)  
Dachshund DNA bundle (IVDD-risk + Osteogenesis imperfecta + NCL + cord1-PRA + crd-PRA)  
English Springer Spaniel DNA bundle (AMS + FN + SPS + Fucosidosis + PFKD + cord1-PRA )  
Welsh Corgi DNA bundle (Brachyuria + IVDD-risk + DM exon2 + rcd3-PRA + vWD1)  
Cocker Spaniel DNA bundle (AMS + FN + prcd PRA)  
Leukoencephalopathy ( LEP )  
Larynx / Laryngeal Paralysis ( LP )  
Dilated Cardiomyopathy ( DCM )  
Mucopolysaccharidosis type IIIb ( MPS3b )  
Renal dysplasia and hepatic fibrosis ( RDHN )  
Stargardt disease ( STGD )  
NECAP-1 Progressive Retinal Atrophy ( NECAP1 PRA / NECAP PRA5)  
SCWT DNA bundle (DM + PLN + PxD + RBP4 + SLC )  
Inflammatory Pulmonary Disease ( IPD )  
Retinal dysplasia ( RD ) / Oculoskeletal Dysplasia ( OSD 3 )  
Shiba Inu DNA bundle (GM1 , GM2 , A Locus and E Locus)  
Hypophosphatasia ( HPP )  
Upper Airway Syndrome ( UAS )  
Portuguese Waterdog DNA Bundle ( GM1 + prcd PRA + Improper Coat)  
Bull Terrier DNA bundle ( LAD + PLL + LP + PKD )  

 
 
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