LABOKLIN (UK)| Genetic Diseases | Dogs| Lagotto DNA bundle: JE+NAD+Furnishing+LSD+prcd-PRA+SLC
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new test:      Paradoxical Pseudomyotonia (PP) in English Cocker and English Springer Spaniels  
new test:      Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel
new test:      Lysosomal Storage Diseases (LSD) in Dalmatian and Doberman  
new Kennel Club DNA testing schemes with LABOKLIN:
   Osteochondrodysplasia (OCD) / Skeletal Dwarfism in Miniature Poodles
  DINGS2: Deafness with Vestibular Dysfunction in Doberman
   Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel


Lagotto DNA bundle: JE+NAD+Furnishing+LSD+prcd-PRA+SLC

Test number: 8499

Price: £ 138.00 (including VAT) for all 6 tests

  1 ) Juvenile Epilepsy (JE)

Breed
Lagotto Romagnolo .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Lagotto Romagnolo.

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
A kind of epilepsy which correlates to symptoms in early age exists in Lagotto Romagnolo. Juvenile epilepsy is genetically imprinted and occurs during week five to twelve of a puppy’s live. Typically, symptoms range from slight shivering and wobbly gait to spastic paralysis, or the dog being unable to walk. Genetic testing offers an opportunity to prove the existence of the disease, despite the short time these varying symptoms appear.
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 Juvenile Epilepsy (JE). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / JE [ Heterozygous ]

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

It is very unlikely that the dog will develop Juvenile Epilepsy (JE) 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: JE / JE [ Homozygous mutant ]

 

The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

The dog is likely to develop Juvenile Epilepsy (JE) 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

  2 ) Furnishings

Breeds
All Dog Breeds , Barbet (French Water Dog) , Griffon Bruxellois (Brussels Griffon) , Chinese Crested , Dachshund , German Wirehaired Pointer , Havana Silk Dog , Havanese - Bichon Havanese , Hungarian Vizsla (Magyar Vizsla / Smooth haired) , Lagotto Romagnolo , Soft Coated Wheaten Terrier , Various dog breeds , Hungarian Wirehaired Vizsla (Vizslak) .
Description

Furnishings refer to the longer facial hair around the eyebrows, moustache, and beard commonly seen in many breeds, including the wirehaired breeds. Presence of furnishings is dominant to the unfurnished version of the gene, which depending on breed may also be referred to as satin, or sleek. LABOKLIN offers a test to see if a furnished dog carries the recessive unfurnished trait.

This coat variant is called 'improper coat' in portuguese waterdogs.

In Hungarian Wirehaired Vizsla (Vizslak) this it is called Wirehair.

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

  3 ) Lagotto Storage Disease (LSD)

Breed
Lagotto Romagnolo .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Lagotto Romagnolo.

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 Lagotto Romagnolo storage disorder is a genetic disroder characterized by movement in-coordination, which is seen as a staggering, uncoordinated gait. Other symptoms such as involuntary eye movements (nystagmus) and behavioral changes, such as aggression, have also been seen in affected dogs. The onset of the disease varies from 4 months to 4 years. The condition is progressive and symptoms in affected worsens to a degree where they need to be euthanized.

In affected dogs, storage materials accumulates in the cerebellar neurons and other cells leading to dysfunction and cell death.

Trait of Inheritance
autosomal-recessive 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 Lagotto Storage Disease (LSD). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / LSD [ Heterozygous ]

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

The dog may or may show symptoms of the Lagotto Storage Disease (LSD). The dog can pass the mutation 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

 

Affected

Genotype: LSD / LSD [ 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 Lagotto Storage Disease (LSD) and will pass the mutant gene to its entire offspring
Sample Requirements
Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube
Turnaround
2-3 weeks

  4 ) Neuroaxonal Dystrophy ( NAD )

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

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

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

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

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

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

  • in Lagotto Romagnolo and Spanish Water dog, the disease is caused by a mutation in the TECPR2 gene, and
  • in Papillon, the disease is caused by a mutation in the PLA2G6 gene; and
  • in Rottweiler, the disease is caused by a mutation in the VPS11 gene, and
  • in Miniature American Shepherd the disease is also caused by another different mutation.
Trait of Inheritance
.

Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

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

 


Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Neuroaxonal Dystrophy ( NAD ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / NAD [ Heterozygous ]

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

It is very unlikely that the dog will develop Neuroaxonal Dystrophy ( NAD ) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%.

Carriers should only be bred to clear dogs.

Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)

 

Affected

Genotype: NAD / NAD [ Homozygous mutant ]

 

The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

The dog is likely to develop Neuroaxonal Dystrophy ( NAD ) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks

  5 ) 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

  6 ) 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 6 tests
£ 138.00 (including VAT)

To order:




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See also:

 
 
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