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**NEW**



Bengal Special offer:
3 Bengal Specific DNA tests for just £60.00 incl VAT
Bengal DNA bundle (rdAc-PRA + b-PRA + PK-Def) 



British Special offer:
3 Breed Specific DNA tests for just £60.00 incl VAT
British Short / Long Hair DNA bundle (PKD + pd-PRA + ALS)



Burmese Special offer:
3 Breed Specific DNA tests for just £66.00 incl VAT
Burmese DNA bundle (Hypokalemia (BHK) + Head Defect + Gangliosidosis (GM2)



Birman Special offer:
4 Breed Specific DNA tests for just £66.00 incl VAT
Birma DNA bundle (PKD + pd-PRA + Hypotrichiose + MPS6)



Maine Coon Special offer:
3 Breed Specific DNA tests for just £60.00 incl VAT
Maine Coon DNA bundle (HCM1 + SMA + PK-Def)



Ragdoll Special offer:
4 Breed Specific DNA tests for just £60.00 incl VAT
Ragdoll DNA bundle (HCM1 + HCM3 + PKD + pd-PRA)



Norwegian Special offer:
3 Breed Specific DNA tests for just £60.00 incl VAT
Norwegian Forest DNA bundle (PK-Def + Amber + GSD4)



Feline Special Offer:
8 cat DNA tests for just £79.95 including VAT
HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups

new test: Cocoa (Chocolate / Brown ) in French Bulldog
new test: Stargardt disease ( STGD )  and  Copper storage disease - Copper toxicosis (CT) in Labrador Retriever
new test: Inflammatory Pulmonary Disease ( IPD ) in Rough and Smooth Collies
new test: Lafora Disease in Basset Hound, Beagle, Chihuahua, French Bulldog, Welsh Corgi and Mini Wirehaired Dachshund
new Kennel Club DNA testing schemes with LABOKLIN:
• Pug Dog Encephalitis (PDE) / Necrotizing Meningoencephalitis (NME) in Pug
• Progressive Retinal Atrophy (prcd-PRA) and • Progressive retinal atrophy ( rcd4-PRA) / LOPRA in Standard Poodle
• Dwarfism ( Chondrodysplasia / disproportinate short-limbed ) and • Primary Open Angle Glaucoma (POAG) in Norwegian Elkhounds


Ragdoll DNA bundle (HCM1 + HCM3 + PKD + pd-PRA)

Test number: 8719


  1 ) HCM 1 (Hypertrophic cardiomyopathy ) Mutation Meurs (G-- > C) A31P

Breed
Maine Coon .
The Disease

Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous myocardial disease and is the most common cardiac disease identified in domestic cats.

HCM is characterised by an increased left ventricular mass due to an increase in wall thickness of the heart, with papillary muscle hypertrophy and systolic anterior motion of the Mitral valves.

Subsequently, hypertrophy of the left heart chamber results in cardiac weakness and ultimately in heart failure.

Death by HCM can occur via three mechanisms:

(i) sudden cardiac death with arrhythmia and ventricular fibrillation,

(ii) heart failure with tachycardia, increased respiration, shortness of breath, pulmonary oedema and pleural effusion or

(iii) thrombus formation. Thrombi can form either in the left atrium due to abnormal blood circulation or in the heart chamber itself due to severe hypertrophy and cardiac weakness.

Atrial thrombi can brake free and reach the arterial blood circuit, thereby often causing blood congestion at the branching of pelvic and crural arteries with paralysis of the hind legs. Echocardiographic examination has so far been the only diagnostic tool for this disease. However, it can only identify affected cats with some years of age, when they already present first symptoms of HCM.

Trait of Inheritance

HCM is inherited as a single autosomal dominant condition. Heterozygous animals show all clinical signs of disease and can not live normal lives. They are able to propagate mutations throughout the population. Generally, 50% of a HCM positive cats offspring will inherit HCM. Homozygously affected animals for HCM show more severe clinical symptoms and will pass the defect gene onto all of their offspring.

Recently, a mutation in the MYBPC gene which is suggested to cause HCM in cats was found by Dr. Kathryn Meurs (Washington State University, USA). This mutation was found in most HCM affected cats but not in cats which were tested free by means of echocardiographic techniques. In our laboratory, we were also able to identify this mutation in european cats with HCM.


Inheritance : AUTOSOMAL DOMINANT trait
Description

DNA test

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.

The test can be applied to Maine Coon and Maine Coon related cats, which were cross bred to Maine Coons. With this test we can diagnose the reported mutation, but by no means we can report on the presence/absence of the disease (especially in breeds where the correlation of HCM disease and the cited mutation is not proven). The results that are transmitted contain the information on presence/absence of the G to C mutation in the MYBPC gene exon 3 in the sample of the cat examined. We want to point out that there is still a small possibility of other mutations causing HCM which are not identified so far.

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

  2 ) HCM (Hypertrophic Cardiomyopathy HCM3/HCR)

Breed
Ragdoll .
The Disease
Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous myocardial disease and is the most common cardiac disease identified in domestic cats. HCM is characterised by an increased left ventricular mass due to an increase in wall thickness of the heart, with papillary muscle hypertrophy and systolic anterior motion of the Mitral valves. Subsequently, hypertrophy of the left heart chamber results in cardiac weakness and ultimately in heart failure. Death by HCM can occur via three mechanisms: (i) sudden cardiac death with arrhythmia and ventricular fibrillation, (ii) heart failure with tachycardia, increased respiration, shortness of breath, pulmonary oedema and pleural effusion or (iii) thrombus formation. Thrombi can form either in the left atrium due to abnormal blood circulation or in the heart chamber itself due to severe hypertrophy and cardiac weakness. Atrial thrombi can brake free and reach the arterial blood circuit, thereby often causing blood congestion at the branching of pelvic and crural arteries with paralysis of the hind legs. Echocardiographic examination has so far been the only diagnostic tool for this disease. However, it can only identify affected cats with some years of age, when they already present first symptoms of HCM.
Trait of Inheritance
HCM is inherited as a single autosomal dominant condition. Heterozygous animals can show clinical signs of disease and can not live normal lives. They are able to propagate mutations throughout the population. Generally, 50% of a HCM positive cats’ offspring will inherit HCM. Homozygously affected animals for HCM show more severe clinical symptoms and will pass the defect gene onto all of their offspring. Recently, a mutation in the MYBPC3 gene which is suggested to cause HCM in Ragdoll cats was found by Dr. Kathryn Meurs (Washington State University, USA). This mutation was found in most HCM affected Ragdolls but not in cats which were tested free by means of echocardiographic techniques. In our laboratory, we were also able to identify this mutation in european Ragdoll cats with HCM. In Ragdolls the mutation which is suggested to cause HCM is like in Maine coons in the MYBPC3- gene but in a different domain. The mutations in the two unrelated breeds presumably occurred independently.

Inheritance : AUTOSOMAL DOMINANT trait
Description

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. The test can be applied to Ragdoll cats. With this test we can diagnose the reported mutation, but by no means we can report on the presence/absence of the disease (especially in breeds where the correlation of HCM disease and the cited mutation is not proven). The results that are transmitted contain the information on presence/absence of the mutation in the MYBPC3 gene, in the sample of the cat examined. We want to point out that there is still a small possibility of other mutations causing HCM which are not identified so far.

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

  3 ) PKD (Feline Polycystic Kidney Disease)

Breeds
Angora , British Shorthair , Birman (Sacred cat of Burma) , British Longhair , Chartreux , Colourpoint , Exotic Shorthair , Persian , Persian Ragdoll , Persian Related , Ragdoll , Ragdoll Related , Russian Blue , Scottish Fold , Selkirk Rex .
The Disease
Feline polycystic kidney disease is an inherited disease in Persian and Persian related cats. Approximately 38 % of Persian cats world-wide are positive for PKD, which is 6% of cats in total, making it the most prominent inherited feline disease. PKD causes the formation of hepatic and renal cysts as well as of fluid-filled renal cysts, often leading to renal failure. Cystic kidneys can sporadically occur in any population of cats, but early onset and bilateral presentation is a hallmark to the hereditary form. The kidney cysts for PKD are present early, generally before 12 months, but renal failure generally occurs at a later time, thus it is considered a late onset renal disease. The presence of cystic kidneys can be determined by 6 to 8 months of age by ultrasonic techniques and affection diagnosis is generally certain by one to two years. Average age for renal dysfunction, not failure, is 7 years for cats with PKD. Thus, with out imaging techniques, cats would go undiagnosed for PKD for many years. Clinical signs are non specific but common to cats experiencing renal dysfunction, including depression, anorexia, reduced appetite, polyuria, polydypsia, and weight loss.
Trait of Inheritance
PKD is inherited as a single autosomal dominant condition. Heterozygous animals show all clinical signs of disease and can not live normal lives. They are able to propagate mutations throughout the population. Generally, 50% of a PKD positive cats' offspring will inherit PKD. Homozygous affected animals for PKD have not been found suggesting that the mutation in its homozygous form is embryonically lethal.

Inheritance : AUTOSOMAL DOMINANT trait
Description

PKD - the mutation Recently, the mutation which is suggested to cause PKD in cats was found by Dr. Leslie Lyons (University of Davis, USA). This mutation was found in all PKD affected cats but not in cats which were tested free by means of ultrasonic techniques.

PKD - the DNA test 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.

The test can be applied to Persian and Persian related cats, which were cross bred to Persians. With this test we can diagnose the reported mutation, but by no means we can report on the presence/absence of the disease (especially in breeds where the correlation of PKD disease and the cited mutation is not proven). The results that are transmitted contain the information on presence/absence of the C to A mutation in the PKD 1 gene exon 29 in the sample of the cat examined. We want to point out that there is still a small possibility of other mutations causing PKD which are not identified so far.

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

  4 ) pd - Progressive Retinal Atrophy (pd-PRA)

Breeds
Angora , British Shorthair , Birman (Sacred cat of Burma) , British Longhair , Chartreux , Colourpoint , Exotic Shorthair , Persian , Ragdoll , Russian Blue , Scottish Fold , Selkirk Rex .
The Disease
The pd- PRA-form of Progressive Retinal Atrophy is an autosomal recessive genetic disorder.

The onset of photoreceptor loss is around 5 weeks of age progressing to severe loss by the age of 16 weeks. Clinical symptoms include uncoordinated eye movement, increased eye-shine was reported as thinning of the retina progresses. Corneal thinning is not observed. Cats with one normal and one mutated gene (carriers) have normal vision although photoreceptor loss has been noted.

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 cat is noncarrier of the mutant gene.

It is very unlikely that the cat will develop pd - Progressive Retinal Atrophy (pd-PRA). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.

 

Carrier

Genotype: N / pd-PRA [ Heterozygous ]

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

It is very unlikely that the cat will develop pd - Progressive Retinal Atrophy (pd-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 cats.

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

 

Affected

Genotype: pd-PRA / pd-PRA [ Homozygous mutant ]

 

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

The cat is likely to develop pd - Progressive Retinal Atrophy (pd-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.
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. .
Turnaround
2 - 3 weeks
Price for the above 4 tests
£ 60.00 (including VAT)

To order:

  • Download Order Form from this link pdf

  • Complete the order form and send it together with your samples to the following address:

    Laboklin (UK),   125 Northenden Road, Manchester, M33 3HF




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:
HCM 1 (Hypertrophic cardiomyopathy ) Mutation Meurs (G-- > C) A31P  
Norwegian Forest DNA bundle (PK-Def + Amber + GSD4)  
HCM (Hypertrophic Cardiomyopathy HCM3/HCR)  
PKD (Feline Polycystic Kidney Disease)  
PK Deficiency (Pyruvate Kinase Deficiency)  
rdAc-PRA (Progressive Retinal Atrophy )  
Genetic Blood groups in cats  
SMA (Spinal Muscular Atrophy )  
Serological Evaluation of blood Groups  
Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK)  
Head Defect (BHD)  
Alpha-Mannosidosis (AMD)  
Congenital Myasthenic Syndrome (CMS)  
Gangliosidosis GM1  
Gangliosidosis GM2  
Gangliosidosis GM2  
Mucopolysaccharidosis Type VI (MPS VI MPS6)  
Mucopolysaccharidosis type VII (MPS VII / MPS7)  
Myotonia Congenita (Fainting Goat)  
pd - Progressive Retinal Atrophy (pd-PRA)  
Progressive Retinal Atrophy (rdy-PRA)  
Hypotrichosis and Short Life Expectancy  
Progressive Retinal Atrophy in Bengal (PRA-b / b-PRA)  
Special Offer: HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups  
Osteochondrodysplasia (Scottish Fold Osteodystrophy)  
Primary Congenital Glaucoma (PCG)  
Autoimmune Lymphoproliferative Syndrome (ALPS)  
Cystinuria (Feline Cystinuria) (CY)  
Persian DNA bundle (PKD + pd-PRA + AMD)  
British Short / Long Hair DNA bundle (PKD + pd-PRA + ALS)  
Burmese DNA bundle (Hypokalemia (BHK) + Head Defect + Gangliosidosis (GM2)  
Birma DNA bundle (PKD + pd-PRA + Hypotrichiose + MPS6)  
Bengal DNA bundle (rdAc-PRA + b-PRA + PK-Def)  
Maine Coon DNA bundle (HCM1 + SMA + PK-Def)  
Glycogen Storage Disease ( GSD ) Type IV  

 
 
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125 Northenden Road, Manchester, M33 3HF
Tel. 0161 282 3066