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new tests: new Kennel Club DNA testing schemes with LABOKLIN:


Respiratory Disease Symptoms DNA bundle

Test number: 8903

Short Name: Respiratory Disease Symptoms DNA bundle
Price: £ 150.00 (including VAT) for all 5 tests
Respiratory Disease Symptoms DNA bundle

Respiratory Disease Symptoms DNA bundle

  • ARDS: 1 variant
  • IPD: 1 variant
  • LAMP3: 1 variant
  • UAS: 1 variant
  • PCD: 2 variants
this bundle includes 6 tests

This bundle includes DNA tests which are most relevant to the symptoms of respiratory disease. It is useful to vets who are presented with patients exhibiting these symptoms and so available genetic variants will be tested regardless of the breed.


  1 ) Acute Respiratory Distress Syndrome ( ARDS )

Breed
Dalmatian .
The Disease
Acute Respiratory Distress Syndrome (ARDS) is an inherited fatal respiratory disease affecting the Dalmatian breed characterised by impaired pulmonary gas exchange, which leads to inflammation and carries substantial risk of death.

The main clinical signs include progressive abnormally rapid breathing (tachypnea) and breathing difficulty (dyspnea) leading to a severe respiratory distress and euthanasia.

Prevalence: it is estimated that 1.7 % of Dalmatians are carriers)

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks

  2 ) Inflammatory Pulmonary Disease ( IPD )

Breeds
Collie , Rough Collie , Smooth Collie .
The Disease
We are pleased to announce that in cooperation with professor Leeb of the University of Bern in Switzerland, Laboklin is now able to offer a DNA test for the detection of the mutation which causes Inflammatory Pulmonary Disease ( IPD ) in Collies and the test is now available for ordering.

Inflammatory Pulmonary Disease ( IPD ) is an inherited lung disease affecting the Collie breed and characterised by recurrent pneumonia, clinical symptoms were seen when affected puppies were only few days old and include foamy vomiting, shallow breathing, cough, increased breathing sounds and fever. Affected dogs responded to therapy with antibiotics and secretolytics, but tended to relapse quickly without antibiotic treatment.

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-3 weeks

  3 ) Lethal Lung Disease (LLD / LAMP3)

Breed
Airedale Terrier .
The Disease
Lethal lung disease in new born Airedale Terrier dogs is a genetic disease caused by a recessive variant in the lysosome associated membrane LAMP3 gene. This genetic defect causes a defect in the maturation of the Surfactant producing organelle of the lung epithelium. Surfactants are mixture of lipids and proteins essential for life that form a thin surface lining film in the gas exchange compartment of the lungs, the alveolus. Surfactants reduces surface tension on the surface of these cells, essential to breathing. Surfactants are produced by the vacuoles which are closed sacs, made of membranes with inorganic or organic molecules inside, such as enzymes. In affected puppies the vacuoles don’t mature and therefore are unable to produce the surfactant causing lethal hypoxic respiratory distress and failure within the first days or weeks of life in affected puppies.
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml)

  4 ) Upper Airway Syndrome ( UAS )

Breed
Norwich Terrier .
The Disease
Upper airway Syndrome is an inherited disease caused by a mutation in the ADAMTS3 gene and characterised by airway oedema which leads to fluid retention in the tissue that lines the airways and makes it more likely that dogs with the mutation will develop breathing obstructions.

Dogs homozygous for the mutation (UAS/ UAS ) are at significantly higher risk of developing the disease than dogs which are heterozygous (N / UAS)

Description

The Norwich Terrier is considered to be a “mesocephalic” breed. While brachycephalic dogs are predisposed to the Brachycephalic Obstructive Airway Syndrome (BOAS), the Upper Airway Syndrome (UAS) could often be observed at dogs of the breed Norwich Terrier. Respiratory effort, resulting in laboured breathing, intolerance to heat or exercise, cyanosis and collapse are typical symptoms of both syndromes (UAS and BOAS).

In the breed Norwich Terrier, a variant in the ADAMTS3 gene could be found to be associated with the UAS. Homozygous affected dogs often show an elongated soft palate protruding caudally into the epiglottis, the laryngeal cartilage is inverted into the lumen of the airway and the laryngeal saccules are everted.

Trait of Inheritance
Upper Airway Syndrome ( UAS ) has an autosomal recessive 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 Upper Airway Syndrome ( UAS ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / UAS [ 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 Upper Airway Syndrome ( UAS ) 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: UAS / UAS [ 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 Upper Airway Syndrome ( UAS ) 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
1-3 weeks

  5 ) Primary ciliary dyskinesia (PCD)

Breeds
Alaskan Malamute , Australian Shepherd , Bobtail , Eurasier , Miniature American Shepherd , Nova Scotia Duck tolling Retriever ( NSDTR / Toller) , Old English Sheepdog (Bobtail) .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Old English Sheepdog (Bobtail).

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.

Description

Primary Ciliary Dyskinesia (PCD) in Dogs

Primary Ciliary Dyskinesia (PCD) belongs to a genetically heterogeneous group of inherited ciliopathies. It causes impaired movement of motile cilia—microscopic hair-like structures lining the respiratory tract and other organs. When these cilia fail to function properly, mucus clearance becomes ineffective, leading to chronic inflammation and infection, particularly in the respiratory system.

Note: Since different variants are found in different breeds, please note that we will only perform the variant that is relevant to the breed of the tested dog. For example, if the breed is Old English Sheepdog, we will only test for the PCD variant in the CCDC39 gene.

Primary Ciliary Dyskinesia – Nova Scotia Duck Tolling Retriever

Primary Ciliary Dyskinesia (PCD) in Nova Scotia Duck Tolling Retrievers is a hereditary disorder caused by a breed-specific missense mutation that disrupts ciliary function. This leads to chronic respiratory infections, nasal discharge, and bronchitis. Affected dogs may also suffer from middle ear infections, reduced fertility due to impaired sperm motility, and in some cases, situs inversus—a mirror-image arrangement of internal organs.

PCD is inherited in an autosomal recessive manner, meaning dogs must inherit two copies of the faulty variant to show clinical signs. Genetic testing tailored to this breed is available and strongly recommended for breeding programs. While there is no cure, supportive care—including antibiotics, physiotherapy, and regular monitoring—can help manage symptoms and improve quality of life.

Primary Ciliary Dyskinesia – Eurasian

In Eurasiers, a genetic variant in the ZMYND10 gene has been linked to PCD. Affected puppies often show respiratory symptoms early in life, including unusual nasal discharge and shortness of breath (tachypnea, dyspnea). Some dogs also present with situs inversus, suggesting Kartagener’s syndrome.

However, not all Eurasiers with suspected PCD carry this variant, indicating that additional, as-yet-unidentified genetic causes may exist within the breed.

Primary Ciliary Dyskinesia – Alaskan Malamute

In Alaskan Malamutes, a variant in the NME5 gene causes recurrent respiratory tract infections, including runny nose and severe coughing. Fertility may be reduced due to impaired ciliary function in the reproductive tract. In some cases, affected dogs may also develop hydrocephalus.

Primary Ciliary Dyskinesia – Old English Sheepdog

PCD in Old English Sheepdogs is associated with a variant in the CCDC39 gene. Affected dogs experience frequent respiratory infections and reduced fertility. Approximately 50% of cases also present with situs inversus, consistent with Kartagener syndrome.

Primary Ciliary Dyskinesia – Australian Shepherd & Miniature American Shepherd

In these breeds, a variant in the STK36 gene has been linked to PCD. Symptoms typically appear within weeks of birth and include recurrent rhinitis, sneezing, and yellow-green nasal discharge. While antibiotics offer temporary relief, symptoms often recur once treatment ends.

Trait of Inheritance
Autosomal recessive 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 Primary ciliary dyskinesia (PCD). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / PCD [ 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 Primary ciliary dyskinesia (PCD) 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: PCD / PCD [ 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 Primary ciliary dyskinesia (PCD) and will pass the mutant gene to its entire offspring
 
Further reading
PCD in Alaskan Malamutehtml file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks
Price for the above 5 tests
£ 150.00 (including VAT)

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