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Cystinuria

Test number: 8013

CY

Breeds
Bull Mastiff , Bulldog , English Mastiff , French Bull Dog , Labrador Retriever , Landseer , Mastiff , Newfoundland .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Newfoundland.
The Disease
Cystinuria is an inherited disorder caused by a defective transport of the amino acid cystine in the kidney tubules. Normally, cystine is filtered in the kidney and reabsorbed within the tubules, resulting in little cystine in the urine. Dogs with Cystinuria do not properly reabsorb the cystine (and a few other amino acids) in the kidney tubules, causing the urine to contain abnormally high levels of cystine. Cystine is insoluble in neutral pH or acidic urine, so excess urinary cystine results in the formation of crystals, which in turn can lead to formation of cystine calculi (stones) in the kidney and/or the bladder. Dogs suffering from Cystinuria suffer repeated urinary tract inflammations, and are at risk for urinary blockage, which can, if not treated promptly, lead to kidney failure, bladder rupture, and death. The average age of onset of clinical signs attributable to Cystinuria is about 4.8 years, but in Newfoundlands, signs appear as early as 6 months to 1 year, suggesting that Newfoundlands suffer from a more severe form of the disorder than other breeds.
Treatment of the Disease
Cystinuria in humans and dogs is generally treated with compounds that bind cystine and prevent crystal formation. The two most common drugs of choice are 2-mercaptopropionylglycine (MPG) and D-penicillamine. Little information is available on effective dosages for Newfoundlands, however, at least one study indicated that affected Newfoundlands require higher dosages of MPG than other dogs with Cystinuria. D-penicillamine was found to be of minimal benefit in reducing cystine calculi. This may relate to the fact that Newfoundlands suffer from a more severe form of the disorder than other breeds. Treatment with MPG can, in some cases, result in dissolution of cystine calculi, therefore eliminating the need for surgical removal of the stones. Unfortunately, some Newfoundlands are poorly responsive to medical treatment, suffering from recurring bouts of urinary dysfunction, and, oftentimes, requiring surgery to resolve urinary calculi. In male Mastiff, Continental, English, French and Olde English Bulldogs, which are tested affected and showing symptoms of he disease, castration can alleviate symptoms.
Trait of Inheritance
Cystinuria in Newfoundlands and Landseer is an inherited autosomal recessive trait. This means that a dog can be genetically clear (homozygous normal), affected, or a carrier (heterozygous). The carriers can spread the diseased gene in the population. Therefore, reliable information on non-affected dogs is the key to controlling this disease.

Inheritance : AUTOSOMAL R`ECESSIVE trait
Description

PCR

Cystinuria is a well-known hereditary metabolic disorder that leads to the formation of urinary stones and urinary obstruction. It has now been described in over 70 breeds. New studies have shown that this disease is very heterogeneous in terms of inheritance, mutation, frequency, severity, treatment and symptoms. A distinction is now made between the following subtypes of cystinuria affecting the different breeds:

The designation of type I cystinuria is used when the disease shows autosomal recessive inheritance, Type II when inheritance is autosomal dominant, and Type III for sex-limited/androgen-dependent inheritance (PH, UG, unpublished data). Additional types can be assigned if found. Specific mutations within each type should lead to phenotypes that are sufficiently similar that the same medical management and breeding advice applies to all cases within that type. Involvement of the SLC3A1 gene is indicated by adding - A, and similarly addendum of - B indicated involvement of mutations in SLC7A9.

  • Newfoundland, Landseer, Labrador: Type I -A - autosomal recessive inheritance
  • Miniature Pinscher: Type I - B - autosomal dominant inheritance
  • Australian Cattle Dog: Type II - A - dominant inheritance
  • Mastiff, Bulldogs, Kromfohrländer and Irish Terrier: Type III - androgen-dependent expression.
The type III genetic test has been available for the breeds Mastiff, Continental, English, French and Olde English Bulldogs since December 2016. We test for a marker which is strongly associated with the occurrence of cystinuria. Type III Cystinuria affects only intact male dogs which have two copies of the cystinuria marker (cy/cy). Castration can alleviate the symptoms. Bitches do not show any symptoms but pass on the mutation to offspring.

Prevalence: between 8 and 16% of the dogs are genetically affected, while the carrier rate is between 32 and 50%. Targeted breeding reduces the frequency of the marker associated with the disease and is therefore desirable. Due to the high frequency of the gene, it is advisable that carriers should not taken out of breeding in order maintain the diversity of the gene pool. Dogs (Males or Females) tested Carriers (N/cy) should only be bred with clear dogs (N/N). Bitches tested genetically affected (homozygous for the mutation) (Cy/Cy) should not be removed from breeding but should only be bred with clear dogs (N/N). Mating with free animals is possible without any problems. The Labogen team will be happy to answer any further questions you may have.

 
Further reading
Canine custinuriaHTML file
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




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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)  
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 ) L2HGA  
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)  
pap-PRA1 (Progressive Retinal Atrophy)  
Progressive Retinal Atrophy (BAS PRA)  
CMSD (Canine Multiple System Degeneration)  
Hereditary Cataract (HSF4) *  
Lagotto DNA bundle: JE + NAD + 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: LOA + SCA + JBD  
JRT and PRT Pack B: LOA + SCA + PLL + JBD + DM2  
Leonberger Polyneuropathy 1 ( LPN1)  
Hereditary Ataxia (HA)  
Finnish Hound Ataxia / Cerebellar Ataxia (FHA / CAFH)  
Dandy-Walker-Like Malformation (DWLM)  
Persistent Müllerian duct syndrome (PMDS)  
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 (GBM)  
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 + 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 * (GeneSeek)  
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)  
Copper storage disease - Copper toxicosis (CT) *  
Hypophosphatasia ( HPP )  
Upper Airway Syndrome ( UAS )  
Portuguese Waterdog DNA Bundle ( GM1 + prcd PRA + Improper Coat)  
Bull Terrier DNA bundle ( LAD + PLL + LP + PKD )  
Australian Shepherd KC DNA bundle (MDR1+ prcd-PRA + CEA + HSF4)  
Beagle KC DNA bundle (F7 + IGS BG + MLS + NCCD)  
Border Collie KC DNA bundle (GG +IGS BC+NCL BC+TNS+SN+MDR1+CEA)  
Chinese Crested KC DNA bundle (PLL + prcd-PRA)  
Collie (Rough) KC DNA bundle (DM Exon2 + rcd2-PRA + MDR1 + CEA)  
English Springer Spaniel (ESS) KC DNA bundle (AMS+cord1-PRA+Fucosidosis+PFKD)  
French Bulldog KC DNA bundle (DM Exon2+SLC+HSF4)  
German Shepherd KC DNA bundle (DM Exon2+F8+MDR1)  
Golden Retriever KC DNA bundle (GR1-PRA+GR2-PRA+Ichthyosis)  
Labrador Retriever KC DNA bundle (EIC+HNPK+SD2+CNM+prcd-PRA)  
Staffordshire Bull Terrier KC DNA bundle  
Cardiomyopathy with Juvenile Mortality (CJM)  
Charcot -Marie - Tooth (CMT )  
Leukodystrophy ( LD )  
Dermatomysitis ( DMS )  
Progressive Retinal Atrophy Type B1 PRA (HIVEP3)  
Behavior Propensity BP  
C-Locus (Albino) / Oculocutaneous Albinism Type 4 (OCA4)  
Inflamatory Myopathy (Myositis) IM  
Lethal Lung Disease (LLD / LAMP3)  
Cystinuria (Dominant)  
SCWT GB-Club bundle (DM Exon2 + PLN + RBP4)  

 
 
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