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HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups

new test: Dilated cardiomyopathy (DCM)  and  Leukoencephalopathy (LEP) in Schnauzer
new test: Laryngeal paralysis (LP) in Bull Terrier and Miniature Bull Terrier
new test: Lafora Disease in Basset Hound, Beagle, Chihuahua, French Bulldog, Welsh Corgi and Mini Wirehaired Dachshund
new Kennel Club DNA testing schemes with LABOKLIN:
• Dilated Cardiomyopathy (DCM) in Schnauzer - • Mucopolysaccharidosis type IIIb (MPS3b) in Schipperke
• Mycobacterium Avium Complex ( MAC ) sensitivity in Miniature Schnauzer
• Leukoencephalomyelopathy (LEMP) and • Leonberger Polyneuropathy 2 (LPN2) in Leonberger


Bull Terrier DNA bundle ( LAD + PLL + LP + PKD )

Test number: 8474


  1 ) Lethal Acrodematitis ( LAD )

Breeds
Bull Terrier , Miniature Bull Terrier .
Trait of Inheritance
.

Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

         
clear
clear
100% clear
         
clear
carrier
50%  clear + 50% carriers
         
clear
affected
100% carriers
         
carrier
clear
50%  clear + 50% carriers
         
carrier
carrier
25% clear + 25% affected + 50% carriers
         
carrier
affected
50% carriers + 50% affected
         
affected
clear
100%  carriers
         
affected
carrier
50% carriers + 50% affected
         
affected
affected
100% affected

 


Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Lethal Acrodematitis ( LAD ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / MKLN1 [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

It is very unlikely that the dog will develop Lethal Acrodematitis ( LAD ) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%.

Carriers should only be bred to clear dogs.

Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)

 

Affected

Genotype: MKLN1 / MKLN1 [ Homozygous mutant ]

 

The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

The dog is likely to develop Lethal Acrodematitis ( LAD ) and will pass the mutant gene to its entire offspring
Description

Lethal Acrodematitis ( LAD ) is an inherited disease affecting the Bull Terriers and Miniature Bull Terriers breeds. The disease is characterised by poor growth, immune deficiency, and skin lesions, especially at the paws.Symptoms includ erythema and adherent scales on the the feet, elbows, hocks and muzzle. Hyperkeratosis of the foot pads is also seen. Immunodeficiency increases susceptibility to microbial infections including skin disease of the face and feet. Signs include stunting, splayed digits and eating difficulties. In older dogs, paronychia, nail disease and hyperkeratosis of the footpads develops, becoming severe in dogs over six months of age.

Puppies suffering from this condition have a greatly reduced lifespan due to infection, and they are often euthanized when the condition becomes very severe and painful.

The disease is caused by a mutation in the MKLN1 gene and a DNA test is now available at Laboklin.

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

  2 ) Primary Lens Luxation (PLL)

Breeds
American Eskimo , American Hairless Terrier , Australian cattle dog , Chinese Crested , Danish Swedish Farmdog , Fox Terrier , German Hunting Terrier , Jack Russell Terrier , Jagd Terrier , Lakeland Terrier , Lancashire Heeler , Lucas Terrier , Miniature Bull Terrier , Norfolk Terrier , Norwich Terrier , Parson Russell Terrier (PRT) , Patterdale Terrier , Pug , Rat Terrier , Sealyham Terrier , Teddy Roosevelt Terrier , Tenterfield Terrier , Tibetan Terrier , Toy Fox Terrier , Volpino Italiano , Welsh Terrier , Westphalia Terrier , Wire-haired Fox Terrier , Yorkshire Terrier .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Chinese Crested , Jack Russell Terrier , Lancashire Heeler , Miniature Bull Terrier , Parson Russell Terrier (PRT) , Sealyham Terrier , Tibetan Terrier , and Welsh Terrier.
The Disease
The zonula fibres secure the position of the lens. Dogs affected from PLL have painful glaucomas and blindness due to a dislocation of the lens due to a breakdown or disintegration of the zonula fibres. PLL can be inherited or acquired. Therefore the disease might also affect genetically free dogs. First clinical signs of the inherited form of PLL are detectable at the very young age of 20 months. A complete lens luxation typically occurs at the age of 3 to 8 years.
Trait of Inheritance
Recently, Cathryn Mellersh and colleagues (Farias et al., 2010) identified a mutation in the gene ADAMTS17 that is responsible for the development of inherited PLL.

The mode of inheritance of PLL is autosomal recessive. This means that PLL-affected dogs receive one mutated gene (allel) from the mother as well as from the father. Hence, the parents need to carry at least one mutated allel.

In most cases heterozygous carriers are healthy. However, it is estimated that about 2 – 20 % of the carriers will develop PLL.


Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

         
clear
clear
100% clear
         
clear
carrier
50%  clear + 50% carriers
         
clear
affected
100% carriers
         
carrier
clear
50%  clear + 50% carriers
         
carrier
carrier
25% clear + 25% affected + 50% carriers
         
carrier
affected
50% carriers + 50% affected
         
affected
clear
100%  carriers
         
affected
carrier
50% carriers + 50% affected
         
affected
affected
100% affected

 


Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

A dog like this is healthy and does not carry the mutated allel responsible for PLL disease. Offspring of this dog will not get the mutated allel.

 

Carrier

Genotype: N / PLL [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

The dog has one copy of the normal allel and in addition one copy of the mutated allel. Carriers have a low risk of developing PLL, however they will pass on the mutation to their offspring. In most cases heterozygous carriers are healthy. However, it is estimated that about 2 – 20 % of the carriers will develop PLL

 

Affected

Genotype: PLL / PLL [ Homozygous mutant ]

 

The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

The dog has two copies of the mutated allel. Affected dogs have a high risk of developing PLL during their lifetime. The mutated allel will be passed to 100% of the offspring. It is recommended to examine the eyes of genetically affected dogs every 6 months by a specialist in order to detect the clinical signs of PLL as early as possible.
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

  3 ) Larynx / Laryngeal Paralysis ( LP )

Breeds
Bull Terrier , Miniature Bull Terrier .
Description

Laryngeal paralysis is an inherited disease affecting Bull Terriers and characterised by difficulties in breathing, especially during physical activity, and may cause death by suffocation in severe cases. Larynx paralysis may require surgery to relieve the difficulties in breathing. Clinical signs include decreasing exercise tolerance, progressive laryngeal stridor, voice impairment, episodes of breathing difficulties and collapsing. In the Bull Terrier and Miniature Bull Terrier, a genetic variant has been identified as a major genetic risk factor for an early onset form of laryngeal paralysis. Dogs which are homozygous for the variant are at 23 fold increased risk of developing the disease, and therefore, dogs carrying the varian should be bred with clear dogs to avoid producing puppies with two copies of the variant.

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

  4 ) Polycystic Kidney Disease (PKD)

Breed
Bull Terrier .
The Disease
polycystic kidney Disease is a genetic slow progressing and irreversible disease charactarised by the presence of cysts in the functional areas of the kidneys, The size of the cysts varies from 0.5 mm to 2.5 mm. Cysts grow and expand replacing the normal kidney tissue, as a result, the functionality of the kidneys declines, the disease is likely to end with chronic renal failure in middle to old aged dogs. The disease affects both kidneys.
Clinical Signs
Clinical symptoms may not appear in the early stages of the disease but it will appear when the disease progresses, signs include excessive water drinking, loss of appetite, increased urination, weight loss, sporadic vomitting and deppression.
Trait of Inheritance
BTPKD is an autosomal dominant disease with high penetrance, this means that positively affected dogs are highly likely to develop the disease.In this mode of inheritence, dogs who carry only one copy of the mutant gene are likely to develop the disease.

Inheritance : AUTOSOMAL DOMINANT trait
Description

Up until recently BTPKD was diagnosed using renal ultrasonography, however, now a DNA test is available at LABOKLIN, using a simple mouth swabs or blood sample it is possible to identify genetically affected dogs from very young age.

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
2 - 3 weeks
Price for the above 4 tests
£ 138.00 (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)  
Copper storage disease - Copper toxicosis (CT) *  
Hypophosphatasia ( HPP )  
Upper Airway Syndrome ( UAS )  
Portuguese Waterdog DNA Bundle ( GM1 + prcd PRA + Improper Coat)  

 
 
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