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LABOKLIN (UK)| Genetic Diseases | Dogs| Rottweiler DNA bundle ( DM2 , LEMP , JLPP , NAD, CL1 , XL - MTM )
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new test:      Paradoxical Pseudomyotonia (PP) in English Cocker and English Springer Spaniels  
new test:      Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel
new test:      Lysosomal Storage Diseases (LSD) in Dalmatian and Doberman  
new Kennel Club DNA testing schemes with LABOKLIN:
   Osteochondrodysplasia (OCD) / Skeletal Dwarfism in Miniature Poodles
  DINGS2: Deafness with Vestibular Dysfunction in Doberman
   Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel


Rottweiler DNA bundle ( DM2 , LEMP , JLPP , NAD, CL1 , XL - MTM )

Test number: 8648

Price: £ 144.00 (including VAT) for all 6 tests

  1 ) Degenerative Myelopathy / Degenerative Radiculomyelopathy) DM (Exon 2) / SOD1

Breeds
Airedale Terrier , Alaskan Malamute , All Dog Breeds , American Eskimo , Bernese Mountain Dog , Bloodhound , Borzoi (Russian Wolfhound) , Boxer , Cavalier King Charles Spaniel , Canaan Dog , Welsh Corgi (Cardigan) , Chesapeake Bay Retriever , Cockapoo (English) , Cockapoo (American) , Fox Terrier , French Bull Dog , German Shepherd , Glen Of Imaal Terrier ( GIT ) , Golden Retriever , Goldendoodle , Pyrenean Mountain Dog (Great Pyrenees) , Hovawart , Pumi ( Hungarian Pumi / Pumik ) , Jack Russell Terrier , Kerry Blue Terrier , Labradoodle , Labrador Retriever , Lakeland Terrier , Northern Inuit (Tamaskan / British Timber Dog) , Nova Scotia Duck tolling Retriever ( NSDTR / Toller) , Pembroke Welsh Corgi , Poodle , Pug , Rhodesian Ridgeback , Rough Collie , Soft Coated Wheaten Terrier , Shetland Sheepdog (Sheltie) , Smooth Collie , Utonagan , Wire Fox Terrier .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Chesapeake Bay Retriever, French Bull Dog, German Shepherd, Nova Scotia Duck tolling Retriever ( NSDTR / Toller), Rough Collie, and Smooth Collie.

for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying features will not be recorded by the Kennel Club.

In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.

important: When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.

The Disease
Canine degenerative myelopathy (also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. The disease has an insidious onset typically between 7 and 14 years of age. It begins with a loss of coordination (ataxia) in the hind limbs. As of July 15, 2008 the mutated gene responsible for DM has been found present in 43 breeds including German Shepherds, Boxers, Chesapeake Bay Retrievers, Rhodesian Ridgebacks, and both breeds of Welsh Corgis. The disease is chronic and progressive, and resulting in paralysis.
Clinical Signs
Degenerative myelopathy initially affects the back legs and causes muscle weakness and loss, and lack of coordination. These cause a staggering effect that may appear to be arthritis. The dog may drag one or both rear paws when it walks. This dragging can cause the nails of one foot to be worn down. The condition may lead to extensive paralysis of the back legs. As the disease progresses, the animal may display symptoms such as incontinence and has considerable difficulties with both balance and walking. If allowed to progress, the animal will show front limb involvement and extensive muscle atrophy. Eventually cranial nerve or respiratory muscle involvement necessitates euthanasia. Progression of the disease is generally slow but highly variable. The animal could be crippled within a few months, or may survive up to three years
Trait of Inheritance
Tow alleles are invloved in Degenerative Myelopathy, A and G, therefore a test result can be A/A, A/G, or G/G.

Mode of inheritance is autosomal recessive with variable penetrance;

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 show signs of the Degenerative Myelopathy

 

Carrier

Genotype: N / DM (Exon 2) [ 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 show signs of the Degenerative Myelopathy

 

Affected

Genotype: DM (Exon 2) / DM (Exon 2) [ 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 may or may not show signs of the disease
Description

SOD1-Gene

Please note that Exon 2 can be found in all dog breeds, there is another DM mutation in Exon 1 which can only be found in Bernese Mountain Dog, click here for more information.

For bernese Mountain Dog we have a special offer for both Exon 1 and Exon 2 at reduced price, click here for more details.

Sample Requirements
Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube
Turnaround
1 - 2 weeks

  2 ) Leukoencephalomyelopathy ( LEMP )

Breeds
Great Dane , Leonberger , Rottweiler .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Leonberger, and Rottweiler.

for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying features will not be recorded by the Kennel Club.

In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.

important: When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.

The Disease
LEMP is an autosomal recessive inherited disease of the central nervous system ( CNS ), which is characeterised by progressive gait abnormalities including paw dragging and knuckling. dogs show lacks of coordination and generalised ataxia. As the disease progresses, affected dogs may become increasingly immobile within a few months. Researchers from the university of Bern and the university of Minnesota were able to identify two causative genetic mutations, one of them affects Leonbergers, and a second one which affects Rottweilers and Great Danes. A test is now available at Laboklin.

Please note that the LEMP variant is also referred to as the 'D' by other labs, this is the same, it is just another nomenclature for the LEMP variant, and so:

  • Clear: N/N (same)
  • Carrier: N/LEMP = N/D
  • Affected: LEMP/LEMP = D/D
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 Leukoencephalomyelopathy ( LEMP ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / LEMP [ 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 Leukoencephalomyelopathy ( LEMP ) 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: LEMP / LEMP [ 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 Leukoencephalomyelopathy ( LEMP ) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks

  3 ) Juvenile Laryngeal Paralysis & Polyneuropathy (JLPP)

Breeds
Russian Black Terrier ( RBT ) , Rottweiler .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Russian Black Terrier ( RBT ), and Rottweiler.

for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying features will not be recorded by the Kennel Club.

In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.

important: When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.

The Disease
Juvenile Laryngeal Paralysis & Polyneuropathy (JLPP) is a genetic disease that affects the nerves. In affected dogs, JLPP starts with the longest nerves in the body, one of the longest nerves is the one that supplies the muscles of the voice box (larynx) leading to muscle weakness and laryngeal paralysis as the first symptom. The vocal folds vibrate noisily and can obstruct the flow of air into the lungs when the dog is exercised or when it is hot. The dog may also choke on their food or water or regurgitate, and this can cause pneumonia.

The disease then progresses to the next longest nerves which supply the muscles of the back legs resulting in difficulty getting up and wobbly gait, the hind limbs are followed by the front limbs.

Other symptoms include abnormalities in eye development.

Symptoms typically start after weaning age.

Trait of Inheritance
Juvenile Laryngeal Paralysis & Polyneuropathy (JLPP) is inherited as autosomal recessive trait. The test enables breeders to identify their dogs as Clear (N/N), Carriers (N/JLPP), or Affected (JLPP/JLPP), and this helps breeders to avoid having affected puppies while maintaining the diversity of the gene pool.

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 Juvenile Laryngeal Paralysis & Polyneuropathy (JLPP). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / JLPP [ 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 Juvenile Laryngeal Paralysis & Polyneuropathy (JLPP) 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: JLPP / JLPP [ 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 Juvenile Laryngeal Paralysis & Polyneuropathy (JLPP) and will pass the mutant gene to its entire offspring
Sample Requirements
Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube
Turnaround
2 - 3 weeks

  4 ) Coat (hair) Length I ( Long or Short Hair)

Breeds
Alaskan Malamute , All Dog Breeds , Border Collie , Welsh Corgi (Cardigan) , Collie , German Shepherd , Pembroke Welsh Corgi , Rottweiler , St. Bernard .
Description

One of the most obvious gross morphological differences among dogs of different breeds is the length of their hair. For the majority of registered dog breeds, the breed standard allows only one hair length. However, variable hair lengths are allowed by the standard for some breeds, such as collies, Border collies, dachshunds and St. Bernards. In other breeds, such as Pembroke Welsh Corgis, the occasional appearance of long-haired dogs (also called “fluffies” in this breed) has been a problem for breeders. It has recently been demonstrated in some dog breeds (e.g. Welsh Corgi, Collie, Border Collie, German Shepherd Dog, Miniature long-haired and Smooth Dachshund) that a missense mutation is associated with the hair-length differences among these breeds. Long-haired coat length is inherited a an autosomal recessiv trait, therefore dogs that are carriers of the long hair mutation will appear to be normal (short hair) themselves but will likely pass on the long-hair mutation 50% of the time.

Long hair is also know as Fluffy is some breeds.

The DNA test allows to distinguish between 3 possible genotypes:

1. L/L Short Hair having 2 copies of the normal short-hair allele 'L'.

2. L/l Short Hair carrying the long hair mutation - carrier having 1 copy of the normal short-hair allele 'L' and 1 copy of the long-hair mutation 'l'.

3. l/l Long Hair having 2 copies of the long-hair mutation 'l'.

Short Hair (L) is dominant over Long Hair (l)

Please note that this test Coat Length I is valid for all dog breeds, however, in the breeds listed below you should test for this mutation (Coat Length I) and for another mutation (Coat Length II) which is also responsible for Coat Length: Afghan Hound, Akita Inu, Alaskan Malamute, ChowChow, Eurasian, Husky, Prager Rattler and Samoyed

 
Further reading
Coat Colour Inheritance Chartshtml file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1 - 3 weeks

  5 ) X-linked Myotubular Myopathy (XLMTM)

Breeds
Labrador Retriever , Rottweiler .
The Disease
Myotubular Myopathy is sex-linked inherited muscle disease that occurs in Labrador Retriever and Rottweiler. Symptoms are similar to Centronuclear Myopathy (CNM) / Hereditary Myopathy.

Affected puppies appear normal at birth but they start showing symptoms between 7 and 19 weeks of age. Symptoms include progressive skeletal muscle atrophy, muscle weakness especially in the hind limbs, small stature compared to unaffected littermates, puppies can walk with short choppy strides, collapsing after few strides, difficulty eating due to weakness in mastication muscles, which may lead to dropped jaws, hoarse bark.

The disease progresses rapidly and puppies become unable to stand or raise their heads by 3-4 weeks after the start of the symptoms.

Affected dogs are usually euthanized between 15-26 weeks of age.

Due to the X Linked recessive mode of inheritance, males can either be clear or affected, where as females can be clear, carriers or affected. Females are rarely affected because affected males are usually euthanized at young age. The disease is primarily found in males. Testing enables breeders to identify clear, carrier and affected dogs and help in reducing the occurrence of the disease.

XLMTM is considered rare and we currently have no information about its prevalence in the UK.

Trait of Inheritance
.

Inheritance : X-LINKED RECESSIVE trait

 

Sire

  Dam   Offspring
        Males   Females
clear
clear
100% clear
 
100% clear
             
clear
carrier
50%  clear + 50% affected
 
50%  clear + 50% carriers
             
clear
affected
100% affected
 
100% carriers
             
affected
clear
100%  clear
 
100%  carriers
             
affected
carrier
50% affected + 50% clear
 
50% affected + 50% carriers
             
affected
affected
100% affected
 
100% affected

 


Male:

Clear

Genotype: N [ normal ]

The dog is noncarrier of the mutant gene.

The dog will never develop X-linked Myotubular Myopathy (XLMTM) and therefore it can be used in breeding and should only be bred to clear females.

 

Affected

Genotype: XLMTM [ mutant ]

 

The dog carries the mutant gene and will pass it its entire female offspring.

The dog will develop X-linked Myotubular Myopathy (XLMTM) and will pass the mutant gene to its entire female offspring

Female:

Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

The dog will never develop X-linked Myotubular Myopathy (XLMTM) and therefore it can be used in breeding and should only be bred to clear females.

 

Carrier

Genotype: N / XLMTM [ Heterozygous ]

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

The dog will never develop X-linked Myotubular Myopathy (XLMTM) but since it carries the mutant gene, it can pass it on to its offspring.

 

Affected

Genotype: XLMTM / XLMTM [ 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 will develop X-linked Myotubular Myopathy (XLMTM) and will pass the mutant gene to its entire female offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2 - 3 weeks

  6 ) Neuroaxonal Dystrophy ( NAD )

Breeds
Lagotto Romagnolo , Miniature American Shepherd , Papillon (Continental Toy Spaniel ) , Rottweiler , Spanish Water Dog .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Papillon (Continental Toy Spaniel ), and Spanish Water Dog.

for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying features will not be recorded by the Kennel Club.

In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.

important: When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.

The Disease
Neuroaxonal Dystrophy in Spanish Water Dogs is an uncharacterized juvenile-onset genetic disorder that affect Spanish Water Dogs. Affected dogs exhibits various neurological deficits including gait abnormalities and behavioral deficits.

Symptoms include slowly progressing neurological signs starting between six and eleven months of age. Owners of affected dogs reported gait abnormalities, behavioral changes (dullness, nervousness, vocalization) and incontinence alone or in combination with uncontrolled defecation. Mild head tilt, generalized mild cerebellar ataxia with hypermetria of the thoracic limbs and absent to depressed patellar reflexed. Additionally, affected dogs displayed varying degrees of compulsory pacing, proprioceptive deficits, decreased menace, visual deficits, positional nystagmus and decreased muscle tone.

  • in Lagotto Romagnolo and Spanish Water dog, the disease is caused by a mutation in the TECPR2 gene, and
  • in Papillon, the disease is caused by a mutation in the PLA2G6 gene; and
  • in Rottweiler, the disease is caused by a mutation in the VPS11 gene, and
  • in Miniature American Shepherd the disease is also caused by another different mutation.
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 Neuroaxonal Dystrophy ( NAD ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / NAD [ 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 Neuroaxonal Dystrophy ( NAD ) 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: NAD / NAD [ 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 Neuroaxonal Dystrophy ( NAD ) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2 - 3 weeks
Price for the above 6 tests
£ 144.00 (including VAT)

To order:




new test:
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new test:
ACAN Dwarfism (Chondrodysplasia)
new test:
Predictive Height Test ( LCORL)
new test:

Tractability
new test:
Coat colour Sunshire Dilution



See also:

 
 
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