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LABOKLIN (UK)| Genetic Diseases | Dogs| Collie DNA Bundle: CEA + DM exon2 + IPD + MDR1 + rcd2-PRA + DMS
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HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups

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


Collie DNA Bundle: CEA + DM exon2 + IPD + MDR1 + rcd2-PRA + DMS

Test number: 8625

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

  1 ) Collie Eye Anomaly (CEA) / Choroidal Hypoplasia (CH) *

Re ISDS: Please note that this test is accepted by the ISDS provided that the sample is collected by a vet who should also sign a sample collection form which can be downloaded from the following link: ISDS DNA Bundle Order Form '
Kennel Club: results of this test is accepted by the Kennel Club
Breeds
Australian Shepherd , Australian Kelpie , Bearded Collie , Border Collie , Boykin Spaniel , Collie , English shepherd , Hokkaido , Lancashire Heeler , Longhaired Whippet , Miniature American Shepherd , Nova Scotia Duck tolling Retriever ( NSDTR / Toller) , Rough Collie , Shetland Sheepdog (Sheltie) , Silken Windhound , Smooth Collie , Long Haired Whippet .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Australian Shepherd, Bearded Collie, Border Collie, Lancashire Heeler, Nova Scotia Duck tolling Retriever ( NSDTR / Toller), Rough Collie, Shetland Sheepdog (Sheltie), 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
Collie Eye Anomaly is an inherited disease with recessive mode of inheritacne which results in abnormal development of the eye's choroid.The disease can be mild or servere, in the mild form of the disease, there is a thinning in the choroid layer of the eye but the dog's vision remains normal, however, dogs with the mild form of the disease can produce severly afected offspring.

In the Severe form of the disease, the dog can suffer serious loss of vision, Colobomas can be seen around and at the optic nerve head as outpouchings in the eye tissue layers. Colobomas may lead to secondary complications such as partial or complete retinal detachments and/or growth of new but abnormal blood vessels with bleeding inside the eye. The disease can affect one or both eyes and can lead to vision loss although this disease rarely lead to complete blindness.

* test performed by partner lab

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 Collie Eye Anomaly (CEA) / Choroidal Hypoplasia (CH) *. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CEA [ 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 Collie Eye Anomaly (CEA) / Choroidal Hypoplasia (CH) * 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: CEA / CEA [ 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 Collie Eye Anomaly (CEA) / Choroidal Hypoplasia (CH) * 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

  2 ) 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

  3 ) 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

  4 ) MDR1 Gene Varian / Ivermectin Sensitivity * (ABCB1)

Breeds
American White Shepherd , Australian Shepherd , Bobtail , Border Collie , Collie , Elo , English shepherd , German Shepherd , Kromfohrländer , Longhaired Whippet , McNab Shepherd (McNab Border Collie) , Miniature American Shepherd , Old English Sheepdog (Bobtail) , Rough Collie , Shetland Sheepdog (Sheltie) , Silken Windhound , Smooth Collie , Waeller (Wäller) , White Swiss Shepherd ( Berger Blanc Suisse ) .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Australian Shepherd, Border Collie, Rough Collie, Shetland Sheepdog (Sheltie), 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
MDR1 is a genetic disorder found in many dog breeds. Affected dogs, when treated with certain common drugs such as Ivermectin and loperamide (Imodium), are unable to pump out these drugs from the brain resulting in poisoning and neurologic symptoms ranging from tremors, anorexia and excess salivation to blindness, coma and even death. Some of these drugs such as Ivermectins, which vets prescribe extensively for the treatment of parasite infections, are able to cause toxicity at 1/200th of the dose required to cause toxicity in healthy dogs.


Scientists discovered that these dogs lack a protein (P-Glycoprotein), which is responsible for pumping out many drugs and toxins from the brain, and that affected dogs show signs of toxicity because they are unable to stop drugs from permeating their brains. Researchers have identified that this condition is due to a mutation in the multi-drug resistance gene [MDR1].
 

LIST OF DRUGS THAT CAUSE SENSITIVITY TO DOGS WITH MDR1 MUTATION

Class A Do not use these drugs in dogs with MDR1 Gene Defect

Ivermectine substances "Anti parasites": (Diapec®, Ecomectin®, Equimax®, Eqvalan®, Ivomec®, Noromectin®, Paramectin®, Qualimec®, Sumex®, Virbamec®) 

Doramectine substances "Anti parasites":  (Dectomax® )

Loperamide substances "ant diarrheal ": (Imodium®)

Moxidectine substances "Anti Parasites" (Cydectin®, Equest®) 

Class B

Use only under close control of veterinarian

Cytostatics  "Chemotherapy": (Vinblastine, Vincristine, Doxorubicine, Paclitaxel, Docetaxel, Methotrexat, Vincristine)

Immunosuppressive: (Cyclosporine A)

Heart glycosides: (Digoxine, Methyldigoxine)

Opioids: (Morphium)

Antiarrhythmics: (Verapamil, Diltiazem, Chinidine)
 

Antiemetics (Ondansetron, Domperidon, Metoclopramide )
 

Antibiotics (Sparfloxacin, Grepafloxacin, Erythromycin)
 

Antihistamin (Ebastin)
 

Glucocorticoid (Dexamethason)

Acepromazine (tranquilizer and pre-anesthetic agent) *

Butorphanol "analgesic and pre-anesthetic agent" *

Other drugs: Etoposide, Mitoxantrone, Ondansetron, Paclitaxel, Rifampicin 

Class C  Can be used only in the permitted application form and dose!   Selamectin (Stronghold®), Milbemax®  and Advocate® .

* In dogs with the MDR1 mutation, acepromazine and butorphanol tend to cause more profound and prolonged sedation in dogs . It is recommended to reduce the dose by 25% in dogs heterozygous for the MDR1 mutation (MDR1 / N) and by 30-50% in dogs homozygous for the MDR1 mutation (MDR1 / MDR1).

Trait of Inheritance
Dogs that are homozygous for the mutation display, due to a non-functional transporter the ivermectin sensitive phenotype. They can show increased absorption of ivermectin and other substrates e.g. Digoxin, Vincristine, Doxorubicin, Cyclosporin A, Grepafloxacin, Dexamethasone and Loperamide (See list of drugs). Heterozygous animals (carriers) may show sensitivity to avermectins and other drugs. They are able to propagate the responsible mutation throughout the population and it is therefore important that carrier animals are detected prior to breeding.
Carriers mayhave sensitivity and should be treated with care

Inheritance : AUTOSOMAL trait
Description

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

The MDR1 gene variant can be detected, using molecular genetic testing techniques. By DNA testing the mutation can be shown directly. The testing is carried out by state of the art laboratory methods and therefore provides a very high accuracy. In general DNA tests can be done at any age. These tests identify both affected and carrier animals. The mutation can be shown directly, what clearly identifies homozygous affected animals. The genetic test offers the unique possibility to identify Ivermectin sensitive animals prior to treatment with Ivermectin and other drugs (see list).

* partner lab

Please note drug list may not be up to date. The WSU Veterinary CLinical Pharmacology Lab may have a more updated list https://vcpl.vetmed.wsu.edu/problem-drugs. Please note that there maybe other problem drugs which may have not been yet identified.

 
Further reading
Canine MDR1 MutationAcrobat file
WSU Problem Drug listHTML file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2 - 3 weeks

  5 ) Progressive Retinal Atrophy (rcd2-PRA) by Laboklin

Breeds
Collie , Rough Collie , Smooth Collie .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Rough 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
Progressive retinal atrophy (PRA) is a leading hereditary cause of blindness in pedigree dogs as is its counterpart retinitis pigmentosa (RP) in humans. PRA shows genetic heterogeneity, as does RP, with several distinct forms already recognized and several more remaining to be investigated. The retina is a thin layer of neural cells that lines the back of the eyeball. The vertebrate retina contains photoreceptor cells (rods and cones) that respond to light. The cones mediate high-resolution vision and colour vision. The rods mediate lower-resolution, black-and-white, night vision. The degeneration of the retina results in loss of vision, often leading to blindness. One can distinguish between late onset forms of PRA and early onset (whelp-age) dysplastic changes. The clinical and ophthalmologic signs of both forms are similar. Affected dogs suffer from bilateral Mydriasis, the reflection of the Tapetum lucidum is increased and the retinal vascular network appears atrophic. Currently, there is no treatment for the disease.

Collie:
The “Collie-PRA”, also termed rod-cone dysplasia type 2 (rcd 2), is one form of progressive retina degeneration which is known for a long time as major health problem in the collie breed. An abnormal development of the cones and rods of the retina leads to night blindness with early onset. First symptoms appear around whelp-age of about 6 weeks. In the majority of cases, a complete loss of vision occur by the age of 1 in rcd2-affected dogs.

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 Progressive Retinal Atrophy (rcd2-PRA) by Laboklin. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / PRA [ 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 Progressive Retinal Atrophy (rcd2-PRA) by Laboklin 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: PRA / PRA [ 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 Progressive Retinal Atrophy (rcd2-PRA) by Laboklin 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 - 2 weeks

  6 ) Dermatomysitis ( DMS )

Breeds
Collie , Rough Collie , Shetland Sheepdog (Sheltie) , Smooth Collie .
The Disease
Dermatomysitis (DMS) is an autoimmune disease with a genetic background and additional environmental triggers. The disease is characterized by lesions of the skin on body-parts with minimal muscle overlay in affected Collies and Shetland Sheepdogs. While the onset of the disease is very variable, first symptoms might occur at about 12 weeks of age. Typical symptoms include hair loss and crusts in areas of legs and feet, the face and ears and the tail. In some cases, those symptoms weaken or disappear, sometimes even reappear during the life of a dog. In contrast to Shetland Sheepdogs, Collies often exhibit muscular dysfunctions like a high stepping gait, difficulties to swallow, drink and eat or muscle atrophy of the head and neck. The gold standard for the direct diagnosis of DMS is a skin biopsy.

The genetic test analyses three variants that determine the risk for DMS. The complex multifactorial genetic trait needs an additional external trigger like vaccination or viral infection to cause symptoms of the disease. Stress-related factors are described to worsen the course of DMS.

The likelihood of an individual dog developing DMS can be classified as low (0%-5%), moderate (33%-50%), or high (90%-100%) based on the genotype combination of locus A (PAN2), locus B (MAP3K7CL), and locus C (DLA-DRB1). Wild type alleles of loci A and B are represented by lower case letters, a and b, while the risk alleles are represented by upper case letters A and B. The risk allele at DLA complex (DLA-DRB1*002:01) is referred to as C, and the lower case letter c represents any alternate allele for DLA-DRB1.

Trait of Inheritance
Low-risk genotypes: aabbCC, aabbCc, AabbCC, AabbCc, aaBbCC, aaBbCc, AaBbCC, AaBbCc, aaBBCc

Moderate-risk genotypes: AAbbCC, AAbbCc, aaBBCC, AaBBCc, AABbCc

High-risk genotypes: AABbCC, AaBBCC, AABBCC, AABBCc

Breeding recommendation: High-risk genotypes (especially: AABB, AaBB, AABb) should be avoided in offspring. Mating should be chosen accordingly.


Inheritance : trait
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks
Price for the above 6 tests
£ 144.00 (including VAT)

To order:




new test:
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new test:
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Tractability
new test:
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See also:

 
 
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