We apologize for any inconvenience caused by the internet outage in our area on Wednesday, 12th June 2024. Our website, email, and phone services were temporarily unavailable
between 9:30 am and 4:00 pm. We are pleased to inform you that the issue has been resolved, and all services are now back to normal. Thank you for your patience and understanding.


LABOKLIN (UK)| Genetic Diseases | Dogs| Shetland DNA Bundle: CEA + DM Exon 2 + vWD Type III + MDR1 + CNGA1-PRA + BBS2-PRA +MCM
prices in Pound
 
  Home
  News and offers
  Genetic Diseases
Dogs
Cats
Horses
Cattle
Pigs
Rabbit
Sheep
  Coat Colours / Length
  Identity / Parentage
  Reptiles & Amphibians
  Avian Tests
  Profiles / Screening
  Infectious Diseases
  Allergy testing
  Organs / Parameters
  Downloads & Order
  Order Kit Online
  About Us
  Crufts & Shows
  Contact Us
  Kennel Club ABS
  facebook
 
**NEW**



Maine Coon Special offer:
8 DNA tests for just £84.95 incl VAT
Maine Coon 8 DNA tests bundle (HCM, SMA, PKDef, Poly, b, b1, cb, cs) 
**NEW**



Bengal Special offer:
4 Bengal Specific DNA tests for just £72.00 incl VAT
Bengal DNA bundle (rdAc-PRA + b-PRA + PK-Def + Blood Groups) 



British Special offer:
4 Breed Specific DNA tests for just £72.00 incl VAT
British Short / Long Hair DNA bundle (PKD + pd-PRA + ALS + Blood Groups)



Burmese Special offer:
4 Breed Specific DNA tests for just £72.00 incl VAT
Burmese DNA bundle (Hypokalemia (BHK) + Head Defect + Gangliosidosis (GM2) + Blood Groups



Birman Special offer:
5 Breed Specific DNA tests for just £72.00 incl VAT
Birma DNA bundle (PKD + pd-PRA + Hypotrichiose + MPS6 + Blood Groups)



Maine Coon Special offer:
5 Breed Specific DNA tests for just £72.00 incl VAT
Maine Coon DNA bundle (HCM1 + SMA + PK-Def + F11 + Blood Groups)



Ragdoll Special offer:
5 Breed Specific DNA tests for just £72.00 incl VAT
Ragdoll DNA bundle (HCM1 + HCM3 + PKD + pd-PRA + Blood Groups)



Norwegian Special offer:
4 Breed Specific DNA tests for just £72.00 incl VAT
Norwegian Forest DNA bundle (PK-Def + Amber + GSD4 + Blood Groups)



Feline Special Offer:
8 cat DNA tests for just £84.95 including VAT
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


Shetland DNA Bundle: CEA + DM Exon 2 + vWD Type III + MDR1 + CNGA1-PRA + BBS2-PRA +MCM

Test number: 8652

Price: £ 138.00 (including VAT) for all 7 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 ) von Willebrand disease Type III (vWD III)

Breeds
Dutch Kooiker (Kooikerhondje ) , Scottish Terrier , Shetland Sheepdog (Sheltie) .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Dutch Kooiker (Kooikerhondje ), and Shetland Sheepdog (Sheltie).

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
The Disease and its major types
Von Willebrand disease (vWD) is the most common inherited bleeding disorder, which is highly heterogeneous ranging from an asymptomatic laboratory abnormality to a life threatening bleeding. The condition is caused by a quantitative or qualitative deficiency of von Willebrand factor (vWF). Von Willebrand's disease vWD usually comes in two major types, type I and type III. Type III is a severe bleeding disorder with a high risk of spontaneous bleeding as well as a risk of serious bleeding from trauma and surgery. It is probably best known in Scotch Terriers. The Shetland Sheep Dogs have also the severe type III vWD.
Trait of Inheritance
vWD Type III is inherited in an autosomal recessive trait. This means that a dog can be genetically clear (also called homozygous normal), a carrier (also called heterozygous) or affected concerning vWD type III. Especially the carriers can spread the diseased gene in the population. Therefore reliable information of dogs that do not carry disease genes 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 von Willebrand disease Type III (vWD III). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / vWD [ 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 von Willebrand disease Type III (vWD III) 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: vWD / vWD [ 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 von Willebrand disease Type III (vWD III) and will pass the mutant gene to its entire offspring
Description

The protein factor assay
The vWD test available in the past has been an assay of von Willebrand factor protein. It is fairly reliable in detecting affected animals, (those with two copies of the defective gene, and at risk for bleeding), because these animals usually have a very low level of the factor. But this test is very unreliable in differentiating gene carriers from clear animals. (Clear dogs are dogs with two copies of the normal gene). Further, many environmental factors influence the protein factor assay. Thus, a dog that tested in the 'normal' range one year could have a low value in the (carrier) range the next year. As a result breeders have not had much success breeding out this disease, which was frustrating to them.
The mutation-based test and its advantages
The genetic defect leading to the disease has been identified. By DNA testing the responsible mutation can be shown directly. This DNA test can be done at any age and unambiguously classify dogs for the rest of their lives into affected, carrier, and clear animals. With this test the breeder can rapidly eliminate the vWD disease gene from the breed. If a particularly valuable dog turns out to be a carrier, it can be bred to a clear animal, and non-carrier puppies saved for the next round of breeding.
The frequency of carriers was estimated to be that about 11% of Shetland Sheep Dogs are carriers of the type III vWD mutation. This is a significant health burden, and it would be good to get rid of this disease gene by using the DNA test. It should be emphasised that carriers will be clinically normal, and can be used as pets. As said above, if a carrier has excellent breed characteristics, it can be bred to a clear animal, and only clear animals among the progeny be used for further breeding.

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2 - 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 (CNGA1 PRA)

Laboklin response to the statement issued by the Norwegian Shetland Sheepdog Club
Breed
Shetland Sheepdog (Sheltie) .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Shetland Sheepdog (Sheltie).

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) refers to a group of genetic disease that occur in a number of dog breeds. The disease is characterised by vision impairment caused by degeneration of the retina in both eyes leading to blindness. The mutation responsible for this disease has already been identified in a number of breeds and DNA tests have been developed to enable breeders to avoid breeding affected dogs. PRA in shelties is clinically similar to PRA in other breeds but the mutation leading to the disease in shelties was not identified. In a recent study scientists found that in shelties there is more than one PRA variant.Scientists have been able to identify one of the mutations that causes PRA in this breed and a DNA test is now available from Laboklin.

In Shelties, the disease shows a varying age on onset. In a study on affected shelties, PRA was diagnosed between the age of 2 and 11.

PRA in shelties is recessive which means that a dog will only develop the disease when it inherits two copies of the mutation, one from each parent. If a dog inherits one copy of the mutant gene from one parent and one copy of the healthy gene from the other parent, it will not develop the disease associated with this mutation but it can pass the mutation to its offspring.

A dog that carries one copy of the mutation (carrier) will not be affected by this mutation but it should only be bred to a clear dog.

The DNA test enable breeders to identify if the dog is clear, carrier or affected and plan their breeding program to avoid having affected puppies.

It is important to point out that this test detects the mutation that causes one variant of PRA. There is at least one more, yet unidentified, mutation responsible for other PRA variant(s) in shelties, which is not detected by this test. The breed also suffers from an additional form of retinal degeneration called Slow Progressing Retinopathy ( SPR ) that progresses more slowly and does not cause such obvious visual impairment as does PRA (Karlstam et al. 2011). This test does not detect SPR. The test is useful to eliminate one form of PRA.

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 (CNGA1 PRA). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CNGA1 [ 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 (CNGA1 PRA) 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: CNGA1 / CNGA1 [ 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 (CNGA1 PRA) 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

  6 ) Progressive Retinal Atrophy ( BBS2 type )

Breed
Shetland Sheepdog (Sheltie) .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Shetland Sheepdog (Sheltie).

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 (BBS2 type)

Another form of PRA affecting Shetland Sheepdogs

This is another form of PRA affecting Shetland Sheepdogs, the disease is caused by a mutation in the BBS2 gene. This novel form of PRA, is unusual because it is expressed together with other characteristics including a wavy, atypical textured coat, upturned nose and dental defects. Scientist also believe that the disease may also cause kidney abnormalities and obesity due to an enhanced motivation for food, but further studies are required to confirm this.

The age of onset of this form of PRA is variable. Dogs which are homozygous for the BBS2 mutation will almost certainly develop PRA during their lifetime and may also display some or all of the other characteristics associated with the syndrome.

Please note that in Shetland Sheepdog there is another PRA variant which can also cause Progressive Retinal Atrophy, it is called Progressive Retinal Atrophy (CNGA1 PRA) , and both tests are recommended for genetic PRA analysis in this breed.

Autosomal recessive

Trait of Inheritance
Autosomal recessive

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 ( BBS2 type ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / BBS2 [ 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 ( BBS2 type ) 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: BBS2 / BBS2 [ 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 ( BBS2 type ) 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

  7 ) Maxillary Canine Tooth Mesioversion (MCM)

Breed
Shetland Sheepdog (Sheltie) .
The Disease
Maxillary canine-tooth mesioversion (MCM) is an inherited disease affecting the Shetland sheepdog breed. The disease is also known as a lance canine, and it is characterised by a developmental dental anomaly characterized by the forward displacement of one or both upper adult canines toward the snout. MCM can have many adverse symptoms including abnormal occlusion, periodontal disease due to closer proximity of the canine to the upper third incisor, and/or ulceration of the upper lip. Treatment of MCM includes extraction or orthodontic repositioning. This dental anomaly is observed nearly exclusively in the Shetland Sheepdog breed.
Trait of Inheritance
Pedigree analysis in affected Shetland Sheepdogs suggests a genetically complex mode of inheritance. T

Inheritance : trait
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks
Price for the above 7 tests
£ 138.00 (including VAT)

To order:




new test:
Androgen Insensitivity Syndrome (AIS)
new test:
ACAN Dwarfism (Chondrodysplasia)
new test:
Predictive Height Test ( LCORL)
new test:

Tractability
new test:
Coat colour Sunshire Dilution



See also:

 
 
Home   |   Genetic Diseases  |   Coat Colours / Length  |   Identity / Parentage  |   Reptiles & Amphibians  |   Avian Tests  |   Profiles / Screening  |   Infectious Diseases  |   Allergy testing  |   Organs / Parameters  |   About us  |   Contact Us
LABOKLIN GmbH & Co. KG
ISO / DIN 17025 Accredited Laboratory
© 2007-2023 Laboklin (UK)
Unit 20, Wheel Forge Way, Trafford Park, Manchester, M17 1EH
Tel. 0161 282 3066