prices in Pound
 
  Home
  News and offers
  Genetic Diseases
Dogs
Cats
Horses
Cattle
Pigs
  Coat Colours / Length
  Identity / Parentage
  Reptiles & Amphibians
  Avian Tests
  Profiles / Screening
  Infectious Diseases
  Organs / Parameters
  Downloads & Order
  Order Online
  About Us
  Crufts & Shows
  Contact Us
  Kennel Club ABS
  facebook
 
  **NEW**



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: Mycobacterium Avium Complex ( MAC ) sensitivity in Miniature Schnauzer
new test: Chondrodystrophy (CDDY with IVDD Risk) and Chondrodysplasia (CDPA) in many breeds ...
new test: Lafora Disease (LAF)/ Myoclonic Epilepsy in Basset Hound, Beagle and Mini Wirehaired Dachshund
new Kennel Club DNA testing schemes with LABOKLIN:
• Sensory Neuropathy in Border Collie
• Neuroaxonal Dystrophy ( NAD ) in Papillon


HCM1 + PK Deficiency + SMA

Test number: 8540

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 ) PK Deficiency (Pyruvate Kinase Deficiency)
Breeds
Abyssinian , Bengal , Domestic Longhair , Domestic Shorthair , Egyptian Mau , La Perm , Maine Coon , Norwegian Forest Cat , Ocicat , Savannah , Siberian , Singapura , Somali .
The Disease
Pyruvate kinase (PK) is an enzyme critical to the anaerobic glycolytic pathway of energy production in the erythrocyte. If erythrocytes are deficient in PK they are unable to sustain normal cell metabolism and hence are destroyed prematurely. This deficiency manifests as an hemolytic anemia of variable severity with a strong regenerative response. In cats, PK deficiency has been described in Abyssinian and Somali cats. The feline disease differs from the canine disease in that affected cats can have a normal life span, only intermittently have anemia, and do not seem to develop either osteosclerosis or liver failure. The clinical signs of disease reflect the anemic status of the animal and include exercise intolerance, weakness, heart murmur and splenomegaly.
Trait of Inheritance
PK is inherited as an autosomal recessive condition. Heterozygotes (carriers) do not have any clinical signs of disease and live normal lives. They are able to propagate mutations throughout the population however and it is therefore important that carrier animals are detected prior to breeding. PK deficiency can be detected, using molecular genetic testing techniques. These tests identify both affected and carrier animals. It is also possible to identify animals deficient in PK activity through enzyme analysis in those breeds where a molecular genetic test is not available.

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 PK Deficiency (Pyruvate Kinase Deficiency). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.

 

Carrier

Genotype: N / PK [ 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 PK Deficiency (Pyruvate Kinase Deficiency) 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: PK / PK [ 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 PK Deficiency (Pyruvate Kinase Deficiency) and will pass the mutant gene to its entire offspring
Description

PK - 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 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. If a particularly valuable animal turns out to be a carrier, it can be bred to a non-affected animal, and non-carrier puppies can be saved for the next round of breeding.

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 ) SMA (Spinal Muscular Atrophy )
Breed
Maine Coon .
The Disease
SMA is a disorder caused by death of spinal cord neurons that activate skeletal muscles of the trunk and limbs. Loss of neurons in the first few months of life leads to muscle weakness and atrophy that first becomes apparent at 3-4 months of age.

Affected kittens develop an odd gait with a sway of the hindquarters and stand with the hocks nearly touching. They may also stand with toes out in the front.

By 5-6 months of age they are too weak in the hindquarters to readily jump up on furniture and often have a clumsy landing when jumping down. The long hair Maine Coon cats may hide it, but careful feeling of the limbs will reveal reduced muscle mass.

Trait of Inheritance
SMA is inherited as an autosomal recessive trait. So there are three conditions a cat can be: it can be clear or homozygous normal (genotype N/N) meaning that it does not carry the mutation and will not develop SMA. Since it also cannot pass the mutation onto its offspring, it can be mated to any other cat. A cat which has one copy of the gene with the mutation and one copy without the mutation is called a carrier or heterozygous (genotype N/SMA); while it will not be affected by SMA, it can pass the mutation onto its offspring and should therefore only be mated to clear cats.

Affected kitten have two gene copies with the mutation (genotype SMA/SMA or homozygous affected); they will always pass the mutated gene onto their offspring.


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 SMA (Spinal Muscular Atrophy ). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.

 

Carrier

Genotype: N / SMA [ 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 SMA (Spinal Muscular Atrophy ) 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: SMA / SMA [ 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 SMA (Spinal Muscular Atrophy ) and will pass the mutant gene to its entire offspring
Description

By DNA testing, the responsible mutation can be shown directly. This method provides a test with a very high accuracy and can be done at any age. It offers the possibility to distinguish not only between affected and clear cats, 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. To ensure maximum test reliability, the test is always performed in two independent test runs per sample.

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
Price for the above 3 tests
£ 120.00 (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

See Also:
HCM 1 (Hypertrophic cardiomyopathy ) Mutation Meurs (G-- > C) A31P  
Autoimmune Lymphoproliferative Syndrome (ALPS)  
HCM (Hypertrophic Cardiomyopathy)  
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)  
Mucopolysaccharidosis type VII (MPS VII)  
Myotonia Congenita (Fainting Goat)  
pd - Progressive Retinal Atrophy (pd-PRA)  
Progressive Retinal Atrophy (rdy-PRA)  
Hypotrichosis and Short Life Expectancy  
Bengal Progressive Retinal Atrophy (PRA-b) *  
Special Offer: HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups  
Osteochondrodysplasia (Scottish Fold Osteodystrophy)  
Primary Congenital Glaucoma (PCG)  
Cystinuria (Feline Cystinuria) (CY)  
Glycogen Storage Disease ( GSD ) Type IV  

 
 
Home   |   Genetic Diseases  |   Coat Colours / Length  |   Identity / Parentage  |   Reptiles & Amphibians  |   Avian Tests  |   Profiles / Screening  |   Infectious Diseases  |   Organs / Parameters  |   About us  |   Contact Us
LABOKLIN GmbH & Co. KG
ISO / DIN 17025 Accredited Laboratory
© 2007 Laboklin (UK)
125 Northenden Road, Manchester, M33 3HF
Tel. 0161 282 3066