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LABOKLIN (UK)| Genetic Diseases | Dogs| Aussie DNA bundle: CEA * + DM exon2 + HSF4 + MDR1 + Brachyury + NCL + prcd-PRA *+SLC
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**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


Aussie DNA bundle: CEA * + DM exon2 + HSF4 + MDR1 + Brachyury + NCL + prcd-PRA *+SLC

Test number: 8624 (this test number replaces the old 8700)

Price: £ 138.00 (including VAT) for all 8 tests
update
this bundle includes all the tests of the old Australian Shepherd KC DNA bundle

  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 ) Hereditary Cataract (HSF4)

Breeds
Australian Shepherd , Miniature American Shepherd , Waeller (Wäller) , Wirehaired Pointing Griffon (Korthals Griffon) .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Australian Shepherd.

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
Cataracts are a leading form of blindness in the dog. The symptoms appear early in life and extend to complete blindness. The only effectice treatment is a surgical intervention. Homozygous affected dogs show more severe progress of the disease than heterozygous.
Trait of Inheritance
This disease is inherited as an autosomal dominant trait

Inheritance : AUTOSOMAL DOMINANT trait
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 ) Brachyury (Bobtail Gene / Short Tail / T-Box)

Breeds
Australian Shepherd , Australian Stumpy tail cattle Dog , Austrian Pinscher , Bourbonnais Pointer (Bourbonnais Pointing Dog) , Bouvier des Ardennes , Brazilian Terrier , Brittany ( Brittany Spaniel ) , Croatian Sheepdog , Danish Farm Dog , Jack Russell Terrier , Karelian Bear Dog , Miniature American Shepherd , Mudi , Polish Lowland sheepdog , Pyrenean Shepherd , Savoy Sheepdog , Schipperke , Spanish Water Dog , Spanish Waterdog , Swedish Farm Dog , Swedish Vallhund , Welsh Corgi .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Schipperke.

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

Bobtail gene: Brachyury / Anury (Bobtail Gene / Short Tail / T-Box)

The spine (or backbone) is made up of a series of small bones called vertebrae. The dog's tail is the last segment of the spine and it is made up of as many as 23 small vertebrae. Normal tail length and number of vertebrae varies considerably in dogs, however, the number within a breed will be the same or may vary by one or two.

Tail length depends on the number of the caudal vertebrae, which can vary significantly between individuals. The bones of the normal tail are bigger at the base and and gradually taper toward the tip, giving the impression of a point.

A natural bobtail is a dog's tail which grows unusually short or is missing completely due to a genetic mutation. A short tail with variable lengths is also referred to as Brachyury , and a complete lack of vertebrae is referred to as Anury In a bobtail, some of the vertebrae are missing; the end of the tail looks somewhat blunt.

The mutation that is responsible for the bobtail phenotype has been identified in many breeds (but not all bobtail breeds), the mutation is in the t-box gene, and a DNA test is available at Laboklin.

The trait of inheritance is autosomal dominant which means that when a dog inherits one copy of the mutation (heterozygous N/T) it will have a natural short tail. Dogs with two copies (homozygous T/T) of the T-Box gene die in womb and reabsorbed resulting in smaller litter size. If puppies are born with two copies of the T-Box, they will have severe anatomical defects including Spina Bifida, which are severe enough to require euthanasia.

The test also helps in identifying if a dog is docked or if it has a natural short tail.

Possible results:

  • N/N (Normal Homozygous for the normal allele): The dog has two copies of the normal gene and will have a normal tail.
  • N/T:(Heterozygous) The dog carries one copy of the normal gene and one copy of the mutant gene; the dog has a natural short tail. Heterozygous dogs can pass the mutation to their offspring with a probability of 50%.
  • T/T (Homozygous for the mutation) (T/T): does not exist and thought to be lethal.

Research found that there is no association between the bobtail mutation and the short tail phenotype in the following breeds:

  • Boston Terrier
  • English Bulldog
  • King Charles Spaniel
  • Miniature Schnauzer
  • Parson Russell Terrier
  • Rottweiler

 
Further reading
Ancestral T-Box Mutationhtml file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2 - 3 weeks

  6 ) Progressive Retinal Atrophy (prcd-PRA): (8094P / 8127)

Kennel Club: results of this test is accepted by the Kennel Club
Breeds
All Dog Breeds , American Cocker Spaniel , American Eskimo , Australian Cattle Dog , Australian Shepherd , Australian Stumpy Tail Cattle Dog , Australian Stumpy tail cattle Dog , Barbet (French Water Dog) , Bearded Collie , Bolognese , Bolonka Zwetna (Tsvetnaya Bolonki) , Cavapoo , Chesapeake Bay Retriever , Chihuahua , Chinese Crested , Cockapoo (English) , Cockapoo (American) , Cocker Spaniel , Dwarf poodle , English Cocker Spaniel , English shepherd , Entlebuch Mountain dog , Finnish Lapphund , German Spitz (Mittel) , Giant Schnauzer , Golden Retriever , Goldendoodle , Jack Russell Terrier , Japanese Chin , Karelian Bear Dog , Kuvasz , Labradoodle , Labrador Retriever , Lagotto Romagnolo , Lapponian Herder , Markiesje , Miniature Poodle , Miniature American Shepherd , Norwegian Elkhound , Nova Scotia Duck tolling Retriever ( NSDTR / Toller) , Parson Russell Terrier (PRT) , Poodle , Portuguese Waterdog , Schipperke , Australian Silky Terrier , Spanish Water Dog , Standard Poodle , Swedish Lapp Hund , Toy Poodle , Waeller (Wäller) , Yorkshire Terrier .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in American Cocker Spaniel, Australian Cattle Dog, Australian Shepherd, Barbet (French Water Dog), Chesapeake Bay Retriever, Chinese Crested, Cocker Spaniel, English Cocker Spaniel, Entlebuch Mountain dog, Finnish Lapphund, Giant Schnauzer, Labrador Retriever, Miniature Poodle, Norwegian Elkhound, Nova Scotia Duck tolling Retriever ( NSDTR / Toller), Portuguese Waterdog, Spanish Water Dog, Standard Poodle, and Toy Poodle.

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) as an inherited disease occurs in many dog breeds and also in different forms. The form of progressive rod-cone degeneration (prcd-PRA) is a photoreceptor degeneration in dogs with varying ages of onset. This genetic disorder causes the degeneration of retinal cells in the eye: firstly, rod cells are affected, thus leading to progressive night blindness. Secondly, degeneration of the cone cells results in complete blindness of the dog, even in full light situations during the day.

Age of onset of clinical symptoms is typically in early adolescence or early adulthood. However, the onset of the disease may vary among different dog breeds.

Since diagnosis of retinal diseases in dogs may prove difficult, the genetic test on prcd-PRA helps to diagnose a specific disease and is also a useful tool for breeders to eliminate the mutated gene from the dog population.

Please note that Lapponian Herder can be affected two other forms of PRA, the IFT122-PRA and the Canine Multi-Focal Retinopathy (CMR) which is caused by a mutation in the BEST1-gene.

Trait of Inheritance
The mutation in the PRCD gene which has been suggested to cause prcd-PRA has recently been published by the group of Gustavo D. Aguirre at the University of Pennsylvania, USA, and could be found in several dog breeds. Prcd-PRA is inherited as an autosomal recessive trait. So there are three conditions a dog can be: it can be clear (genotype N/N or homozygous normal) meaning that it does not carry the mutation and will not develop the prcd-form of PRA. Since it also cannot pass the mutation onto its offspring, it can be mated to any other dog.

A dog which has one copy of the PRCD gene with the mutation and one copy without the mutation is called a carrier or heterozygous (genotype N/PRA); while it will not be affected by prcd-PRA, it can pass the mutation onto its offspring and should therefore only be mated to clear dogs. Dogs that develop this form of PRA have two PRCD gene copies with the mutation (genotype PRA/PRA or homozygous affected); they will always pass the mutated gene onto their offspring and should also be mated only to clear dogs..


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 (prcd-PRA): (8094P / 8127). 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 (prcd-PRA): (8094P / 8127) 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 (prcd-PRA): (8094P / 8127) 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

  7 ) Neuronal Ceroid Lipofuscinosis Combi ( NCL Combi )

Note
This test detects 2 mutations depending on the selected breed:
  • In Australian Shepherd and Miniature American Shepherd:
    2 breed specific variants are detected (standard and adult onset)
  • In Australian Cattle Dog : 2 breed specific variants are detected (standard and adult onset)
  • In Dachshunds : 2 breed specific variants are detected (standard and adult onset)

Please note that other breeds are known to be affected by other NCL variants, you can check NCL in other breeds

Breeds
Australian Cattle Dog , Australian Shepherd , Dachshund , Miniature Wire haired Dachshund , Miniature American Shepherd , Miniature Long Haired Dachshund , Miniature Smooth Haired Dachshund , Standard Long Haired Dachshund , Standard Smooth Haired Dachshund , Standard Wirehaired Dachshund .
The Disease
The clinical course includes increasing levels of agitation and possible outbursts of aggression, hallucinations, hyperactivity and epileptic fits. Most animals lose their ability to coordinate everyday muscular activities. As the extent of neurodegeneration increases, all affected dogs develop psychological abnormalities and ataxia.
Trait of Inheritance
Ceroid lipofuscinosis in Border Collies and American Bulldogs is an inherited autosomal recessive trait. This means that a dog can be clear (homozygous normal), affected, or a carrier (heterozygous). The carriers can spread the diseased gene in the population. Therefore, reliable information on non-affected dogs is the key to controlling this disease.

Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

         
clear
clear
100% clear
         
clear
carrier
50%  clear + 50% carriers
         
clear
affected
100% carriers
         
carrier
clear
50%  clear + 50% carriers
         
carrier
carrier
25% clear + 25% affected + 50% carriers
         
carrier
affected
50% carriers + 50% affected
         
affected
clear
100%  carriers
         
affected
carrier
50% carriers + 50% affected
         
affected
affected
100% affected

 


Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Neuronal Ceroid Lipofuscinosis Combi ( NCL Combi ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / NCL [ 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 Neuronal Ceroid Lipofuscinosis Combi ( NCL Combi ) 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: NCL / NCL [ 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 Neuronal Ceroid Lipofuscinosis Combi ( NCL Combi ) and will pass the mutant gene to its entire offspring
Description

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

* Please note that NCL in American Staffordhsire Terrier is run by a partner lab

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2 - 3 weeks

  8 ) Hyperuricosuria / Urate Stones (HUU, SLC)

New Kennel Club DNA testing scheme for HUU in Dalmatian
The Kennel Club has agreed a new DNA testing scheme for Hyperuricosuria (HUU) / Urate Stone Disorder (USD) in Dalmatian. Under this scheme, HUU test results can be sent by Laboklin to the Kennel Club to be recorded and published only if the submission and testing procedure complies with the following protocol:
  • that dogs to be tested are microchipped and registered before the test sample is taken;
  • that the test sample (whether buccal swab or EDTA blood sample or other) is taken by a veterinary surgeon or veterinary nurse who first confirms the microchip identity of the test subject and records both the microchip number and registration name on the sample container/package;
  • that the sample is sent directly by the veterinary surgery to LABOKLIN.

    Copies of all future test certificate results issued by LABOKLIN will only be recorded by the Kennel Club at this time provided they comply with the above protocols.

    Please ensure that the veterinary surgeon or veterinary nurse taking the sample complete the vet section on the order form, sign it and stamp it, send it directly to Laboklin and ensure that there stamp is on the package / envelope containing the samples submitted.

Breeds
All Dog Breeds , Russian Black Terrier ( RBT ) , Bulldog (English) , Dalmatian , Giant Schnauzer , Hungarian Vizsla (Magyar Vizsla / Smooth haired) , Large Munsterlander , Spanish Water Dog , Weimaraner , Hungarian Wirehaired Vizsla (Vizslak) .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Russian Black Terrier ( RBT ), Bulldog (English), Dalmatian, Large Munsterlander, and Hungarian Wirehaired Vizsla (Vizslak).

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
Hyperuricosuria is characterized by elevated levels of uric acid in the urine. This disease predisposes dogs to form stones in their bladders or sometimes kidneys. The trait can occur in any breed but is most commonly found in the Dalmatian, Bulldog and Black Russian Terrier. The mutation was recently described in Spanish Waterdog (https://www.ncbi.nlm.nih.gov/pubmed/26538670).

Here at Laboklin we recently tested an Australian Shepherd as carrier of HUU but we have no information about its prevalence in this breed, and therefore testing recomended if your aussie is showing symptoms of the disease.

Trait of Inheritance
Hyperuricosuria is inherited as a simple autosomal recessive trait.

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 Hyperuricosuria / Urate Stones (HUU, SLC). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / SLC2 [ 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 Hyperuricosuria / Urate Stones (HUU, SLC) 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: SLC2 / SLC2 [ 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 Hyperuricosuria / Urate Stones (HUU, SLC) 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
Price for the above 8 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:

 
 
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