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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
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new Kennel Club DNA testing schemes with LABOKLIN:
• Dilated Cardiomyopathy (DCM) in Schnauzer - • Mucopolysaccharidosis type IIIb (MPS3b) in Schipperke
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Shiba Inu DNA bundle (GM1 , GM2 , A Locus and E Locus)

Test number: 8681

1 ) GM1-Gangliosidosis
Breeds
Huskies , Portuguese Waterdog , Shiba Inu .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Portuguese Waterdog.
The Disease
GM1-Gangliosidosis in Huskies is a lysosomal storage disease that leads to neurological disorders. Affected dogs suffer from paralysis of the extremities and spasticity of the muscles. At the age of about 8 months most dogs die of this disease.
Trait of Inheritance
GM1-Gangliosidosis in Huskies is an inherited autosomal recessive trait. This means that a dog can be 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 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 GM1-Gangliosidosis. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / GM1 [ 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 GM1-Gangliosidosis 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: GM1 / GM1 [ 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 GM1-Gangliosidosis and will pass the mutant gene to its entire offspring
Description

This is a mutation-based gene test, which offers many advantages over other methods

The genetic defect leading to the disease has been identified. By DNA testing, the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish not only between affected and clear dogs, but also to identify clinically healthy carriers. This is an essential information for controlling the disease in the breed, as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic.

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
2 ) GM2 Gangliosidosis Variant 0 (Sandhoff Disease)
Breeds
Japanese Chin , Shiba Inu , Toy Poodle .
The Disease
GM2 gangliosidosis is a progressive neurodegenerative Lysosomal Storage disease caused by a recessive mutation. Affected dogs are unable to break down certain enzymes, which are needed to degrade neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues. Accumulation of these metabolites leads to a progressive destruction of the central nervous system. Affected dogs typically exhibit symptoms of neurologic disease around the age of 9 to 12 months. Symptoms include loss of vision, walking difficulties, loss of balance, head tremors and vomiting. Once an affected dog begins to show signs of the disease, the disease progresses rapidly and dogs usually die between the ages of 18 and 23 months.
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 GM2 Gangliosidosis Variant 0 (Sandhoff Disease). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / GM2 [ 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 GM2 Gangliosidosis Variant 0 (Sandhoff Disease) 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: GM2 / GM2 [ 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 GM2 Gangliosidosis Variant 0 (Sandhoff Disease) and will pass the mutant gene to its entire offspring
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. .
3 ) Coat Colours: A-Locus Agouti ( fawn, sable, black and tan/tricolor, recessive black)
Breed
All Dog Breeds .
Description

The A locus is responsible for a number of common coat patterns in the dog. Expression of all of them requires any combination of two Ky or Kbr alleles at the K locus, and at least one E or EM allele at the E locus. The gene involved is the Agouti gene, and variations in it are responsible for fawn and sable dogs (Ay), wild type (aw), tan points (at), and recessive black(a).

analysis proves absence or presence of the mutation typically responsible for fawn or sable. In fawn/ sable dogs this test shows if other agouti alleles are present but hidden (only one copy of Ay). It also demonstrates how many copies of this allele are hidden in dogs, which cannot express agouti types (KBKB,  KB  kbr, KB ky, at the k locus and/or ee at the E locus).

shows whether a black dog is black due to “recessive black,” or the more common black at the K locus. It also reveals whether a non-black animal carries “recessive black.” (e.g. German Shepherd Dog, Shetland Sheepdog)

at allele (tan points, tricolors) There is no direct test yet for this recessive allele (, but in some breeds, carriers may be deduced by use of the other two agouti tests. In breeds where only the Ay  and at alleles are present, the Ay test can be used to see if the fawn/sable dog is Ay/Ay (homozygous) or only has one Ay (heterozygous). If it only has one, the other allele must be at. (e.g. Afghans, Collies, Cardigan Welsh Corgi, Dachshund, Norwich Terrier, Staffordshire Terrier) In breeds where only Ay, at and “a” alleles are present, both the Ay test and the “a” test need to be performed. Any alleles unaccounted for by these two tests will be at. For example, if a dog is Ay/Ay both alleles are accounted for. If a fawn/sable dog only has a single Ay, then the other allele must either be an “a” or an at, and this can be determined by running the recessive black (“a”) test. Examples of breeds:< Shetland Sheepdog, Belgians (Malinois, Groenendael).

 
Further reading
Coat Colour Inheritance Chartshtml file
Brittany Coat ColoursPDF 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
4 ) Coat Colours: E-Locus E1 (yellow, lemon, red, cream and appricot)
Breeds
Afghan , All Dog Breeds , Australian cattle dog , Australian Shepherd , Beagle , Border collie , Brittany Spaniel , Cardigan Welsh Corgi , Chow Chow , Cocker Spaniel , Dachshund , Dalmatian , Doberman Pinscher , English Cocker Spaniel , English Setter , English Springer Spaniel , Field Spaniel , Flatcoated Retriever , Foxhound , French Bull Dog , German Longhaired Pointer , German Shepherd , German Wirehaired Pointer , Gordon Setter , Koolie ( Australian Koolie ) , Labrador Retriever , Lowchen , Miniature Schnauzer , Pointer , Pomeranian , Poodle , Pudelpointer .
Description

The Coat Colours

As in other mammals, dogs appear to have two major types of pigment in their coat. The basic colours are either dark (brown or black) or yellow. The rich colour varieties seen among dog breeds are due to genes controlling the amount, extent, and distribution of these two colour pigments. In the Labrador- and Flatcoated retriever, three different coat colours are are currently acknowledged- black, brown or yellow.

Please note that in Australian Cattle Dog, anothermutation E Locus E2 is responsible for this coat colour and both E Locus E1 and E2 must be tested in this breed.

The Trait of Inheritance

The three alleles (forms) of this gene are black (E), melanistic mask (Em) and red (e). E and Em are dominant to e, therefore a dog must have 2 copies of e to be red / yellow.

The red/yellow coat colour (e) is inherited in an autosomal-recessive trait.he DNA test offers the detection of carriers which helps prediction of the colour of the offspring. The test does not detect the melanistic mask allele (Em).

 
Further reading
Coat Colour Inheritance Chartshtml file
Brittany Coat ColoursPDF 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 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))  
Collie Eye Anomaly (CEA) / Choroidal Hypoplasia (CH) Option 2 Optigen*  
Retinal Dysplasia (RD) / Oculo Skeletal Dysplasia (OSD)*  
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) Option 2: Optigen (8094X)  
Progressive Retinal Atrophy (prcd-PRA) Option 1: (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  
Type A PRA * Optigen)  
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) Option 1*  
Macrothrombocytopenia ( MTC- R )  
Muscular Dystrophy (MDL)  
Mucopolysaccharidosis type IIIa (MPS IIIA)  
Neuroaxonal Dystrophy ( NAD )  
Progressive Retinal Atrophy (rcd2-PRA) Option 1 by Laboklin  
Ichthyosis ( Epidermolytic Hyperkeratosis (EHK) )  
May-Hegglin Anomaly (MHA)  
Alaskan Husky Encephalopathy (AHE)  
Cerebral Dysfunction (CDF)  
Dwarfism ( Chondrodysplasia )  
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 Option 1 + 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 option 1 + vWD1  
Golden Retriever DNA bundle: GR-PRA1 + GR-PRA2 + Ichthyosis + prcd-PRA option 1 + Muscular Dystrophy (MD)  
Pug Special Offer: DM Exon2 + MH + PDE / NME + PK + PLL  
Aussie DNA bundle: CEA option * + DM exon2 + HSF4 + MDR1 + MH + NCL + prcd-PRA Option 1*  
Collie DNA Bundle: CEA Option 1 + DM exon2 + HUU (SLC) + MDR1 + rcd2-PRA  
Border Collie DNA Bundle: CEA Option 1 + IGS + MDR1 + Raine + SN + NCL + TNS + GGD  
Pack A: CNM + DM exon2 + EIC + HNPK + OSD option 1 + prcd-PRA option 1 + 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 + SLC + MD + Thrombopathia)  
Rhodesian Ridgeback DNA Bundle (DM2 + Haemophilia B + B Locus + JME + D Locus)  
Rottweiler DNA bundle ( DM2 , SLC , 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 option 1 + 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 option 1)  
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 )  
Hypophosphatasia ( HPP )  
Upper Airway Syndrome ( UAS )  
Oculoskeletal Dysplasia ( OSD 3 )  

 
 
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125 Northenden Road, Manchester, M33 3HF
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