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LABOKLIN (UK)| Genetic Diseases | Horses| Bundle: Paint Horse (PSSM + HERDA + GBED + HYPP + OLWS + EMH)
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Bundle: Paint Horse (PSSM + HERDA + GBED + HYPP + OLWS + EMH)

Test number: 8671 (this test number replaces the old 9504H)

Price: £ 168.00 (including VAT) for all 6 tests

  1 ) Glycogen Branching Enzyme Deficiency (GBED)

Breeds
Appaloosas , Paint Horse , Quarter Horse (Horse with quarter horse blood) .
The Disease
Affected foals lack the enzyme GBE that is necessary for synthesis and storage of glycogen. Predominantly affected are sceletal muscle, brain and heart. Clinical signs associated with GBED are:

-Abortion, dead or weak foals
-sudden death due to heart failure and or seizures
-tachypnoa due to weak sceletal muscle (diaphragm)
-generalised weakness, especially when getting up
There is no treatment available yet and up to now affected foals died or had to be euthanized.

Until recently GBED has not been recognized as a disease, mainly because the clinical signs are very similar to other diseases that typically affect foals. Furthermore, routine staining of muscle tissue post mortem was not suitable to detect GBED.

After the development of a genetic test to identify the mutation responsible for GBED, epidemiological studies revealed that about 10% of the horses belonging to QH, Paints and related blood lines carry the mutation. It is suspected that about 3% of the abortions of QH are due to this disease.

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 horse is noncarrier of the mutant gene.

It is very unlikely that the horse will develop Glycogen Branching Enzyme Deficiency (GBED). The horse will never pass the mutation to its offspring, and therefore it can be bred to any other horse.

 

Carrier

Genotype: N / GBED [ Heterozygous ]

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

It is very unlikely that the horse will develop Glycogen Branching Enzyme Deficiency (GBED) 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 horses.

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

 

Affected

Genotype: GBED / GBED [ Homozygous mutant ]

 

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

The horse is likely to develop Glycogen Branching Enzyme Deficiency (GBED) and will pass the mutant gene to its entire offspring
Sample Requirements
Hair Sample from mane with roots (approx 30 hairs) , Buccal Swabs or 1 ml whole blood in EDTA tube.

How to obtain a viable hair sample

Pull around 30 hairs from the mane of the horse with the roots (in faols hair from the tail maybe taken). Wrap the hairs around your finger or a comb, as close as possible to the skin to ensure you obtain the hair roots. Keep dry, put in a bag, label the bag with the horse name, test (s) required. Place in an envelope and send back to us together with the order form. Broken or cut off hair will not be accepted.

Turnaround
1 - 2 weeks

  2 ) HERDA (Hereditary Equine Regional Dermal Asthenia)

Breeds
Appaloosas , Paint Horse , Quarter Horse (Horse with quarter horse blood) .
The Disease
Hereditary equine regional dermal asthenia (HERDA) is a degenerative genetic disease of the skin primarily found in the American QH. Within the population carrier frequency has been estimated between 1.8 and 6.5%; an autosomal recessive mode of inheritance is supported.

Affected foals rarely show symptoms at birth. Areas that develop symptoms later are focal and irregularly distributed over the body. However, most lesions are concentrated along the dorsal aspect. Since that the disease typically occurs by the age of 2 years when the horse first being broke to saddle. The horses skin is hyperextensible, scarred and often shows heavy lesions.

Histological examination only gives vague hints towards HERDA but cannot definitely diagnose the disease.

Trait of Inheritance
HERDA follows autosomal recessive 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 horse is noncarrier of the mutant gene.

It is very unlikely that the horse will develop HERDA (Hereditary Equine Regional Dermal Asthenia). The horse will never pass the mutation to its offspring, and therefore it can be bred to any other horse.

 

Carrier

Genotype: N / HERDA [ Heterozygous ]

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

It is very unlikely that the horse will develop HERDA (Hereditary Equine Regional Dermal Asthenia) 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 horses.

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

 

Affected

Genotype: HERDA / HERDA [ Homozygous mutant ]

 

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

The horse is likely to develop HERDA (Hereditary Equine Regional Dermal Asthenia) and will pass the mutant gene to its entire offspring
Description

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 horses, 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.

Sample Requirements
Hair Sample from mane with roots (approx 30 hairs) , Buccal Swabs or 1 ml whole blood in EDTA tube.

How to obtain a viable hair sample

Pull around 30 hairs from the mane of the horse with the roots (in faols hair from the tail maybe taken). Wrap the hairs around your finger or a comb, as close as possible to the skin to ensure you obtain the hair roots. Keep dry, put in a bag, label the bag with the horse name, test (s) required. Place in an envelope and send back to us together with the order form. Broken or cut off hair will not be accepted.
Turnaround
1 - 2 weeks

  3 ) HYPP (Hypercalaemic Periodic Paralysis)

Breeds
Appaloosas , Paint Horse , Quarter Horse (Horse with quarter horse blood) .
The Disease
Hyperkalaemic Periodic Paralysis has been reported in Quarter Horses (Offsprings of the stallion ImpressiveĆ¢) and horses with Quarterhorse blood (Apaloosas and Paints). The disease is characterized by intermittent episodes of muscular fasciculations, weakness, myotonia, or involuntary recumbency. HYPP is the result of a genetic mutation in the sodium channel gene of skeletal muscles. It is inherited as an autosomal dominant trait. That means that a heterozygous carrier of the defect gene shows the same symptoms than a horse with both allels affected. The breeding of an genetically clear horse with a heterozygous carrier produces a diseased horse with a probability of 50%.
Trait of Inheritance
HYPP follows an autosomal dominant trait of inheritance.

Inheritance : AUTOSOMAL DOMINANT trait
Description

This is a mutation-based gene test, which offers many advantages over other methods

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 horses, but also to identify carriers.

 
Further reading
Hyerkalemic Periodic Paralysishtml file
Sample Requirements
Hair Sample from mane with roots (approx 30 hairs) , Buccal Swabs or 1 ml whole blood in EDTA tube.

How to obtain a viable hair sample

Pull around 30 hairs from the mane of the horse with the roots (in faols hair from the tail maybe taken). Wrap the hairs around your finger or a comb, as close as possible to the skin to ensure you obtain the hair roots. Keep dry, put in a bag, label the bag with the horse name, test (s) required. Place in an envelope and send back to us together with the order form. Broken or cut off hair will not be accepted.
Turnaround
1 - 3 weeks

  4 ) PSSM (Polysaccharid Storage Myopathy)

Breeds
All Horse Breeds , American Paint Horse , Appaloosas , Draft Breeds , Quarter Horse (Horse with quarter horse blood) , Warmblood .
The Disease
PSSM is a debilitating up to even life-threatening glycogen storage myopathy which is highly prevalent in multiple breeds of horses. Primarily affected are QHs, American Paint Horses, Appaloosas, but also Draft Horses and Warmbloods and crossbreeds of all of them. The hallmark of PSSM is the accumulation of abnormal polysaccharides within the muscles as well as the abnormal accumulation of glycogen.
Clinical Signs
PSSM-horses show signs typically associated with tying-up: reluctance to move, muscle-tremor, muscle stiffness, sweating, shifting lameness, stretching of the hindlegs and inability to move. Episodes usually begin after 10 to 20 minutes of light exercise. Muscles of the most affected hind quarters are firm and hard or even painful. Many of the horses have an anamnesis of repeated episodes of muscular problems. With severe symptoms the disease can result in a myoglobinuria and possibly renal problems. All together, PSSM is thought to be responsible for a large portion of neuromuscular diseases in affected breeds
Trait of Inheritance
A horse inherits one copy of the gene from each parent, a normal gene is abbreviated as N while a mutant gene is abbreviated as P. in dominant inheritance, if one of the genes is mutant (P/N) the horse is expected to be affected by the PSSM. If the two inherited genes are mutant (P/P) the horse is homozygous and is expected to show severe signs of the disease.

Inheritance : AUTOSOMAL DOMINANT trait
Description

PSSM mutation in the GYS1-gene (PSSM1)

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 horses. This is an essential information for controlling the disease.

Please note that our test detect the mutation in the GYS1 gene which iassociated with PSSM symptons, however, there are other causes of PSSM which cannot be ruled out by this test.

our test is known as PSSM1, For clarity, the form of PSSM caused by a glycogen synthase 1 (GYS1) gene mutation is now termed type 1(PSSM1) whereas the form or forms of PSSM that are not caused by the GYS1 mutation and whose origin is not yet identified, are now termed type 2 (PSSM2). Our test detects only PSSM1.

our test does not detect the, yet unknown, PSSM2

Sample Requirements
Hair Sample from mane with roots (approx 30 hairs) , Buccal Swabs or 1 ml whole blood in EDTA tube.

How to obtain a viable hair sample

Pull around 30 hairs from the mane of the horse with the roots (in faols hair from the tail maybe taken). Wrap the hairs around your finger or a comb, as close as possible to the skin to ensure you obtain the hair roots. Keep dry, put in a bag, label the bag with the horse name, test (s) required. Place in an envelope and send back to us together with the order form. Broken or cut off hair will not be accepted.
Turnaround
1 - 2 weeks

  5 ) Equine Malignant Hypethermia (EMH)

Breed
All Horse Breeds .
The Disease
Equine Malignant Hyperthermia (EMH) is a life-threatening pharmacogenetic disorder of skeletal muscle elicited by halogenated anesthetics, depolarizing muscle relaxants, and stress. Dysfunction of RyR1 (calcium release channel of the sarcoplasmic reticulum of skeletal muscle) results in excessive release of calcium into the myoplasm-triggering cascade events that lead to a hypermetabolic state and ultimately cell death. Clinical and laboratory manifestations include tachycardia, hyperthermia, muscle rigidity, rhabdomyolysis, respiratory and metabolic acidosis, and electrolyte derangements.
Trait of Inheritance
Autosomal dominant

Inheritance : AUTOSOMAL DOMINANT trait
Sample Requirements
Hair Sample from mane with roots (approx 30 hairs) , Buccal Swabs or 1 ml whole blood in EDTA tube.

How to obtain a viable hair sample

Pull around 30 hairs from the mane of the horse with the roots (in faols hair from the tail maybe taken). Wrap the hairs around your finger or a comb, as close as possible to the skin to ensure you obtain the hair roots. Keep dry, put in a bag, label the bag with the horse name, test (s) required. Place in an envelope and send back to us together with the order form. Broken or cut off hair will not be accepted.

Turnaround
2 - 3 weeks

  6 ) OLWS / LWO ( Lethal White Foal Syndrome-Frame Overo)

Breeds
Appaloosas , Paint Horse , Quarter Horse (Horse with quarter horse blood) .
The Disease
Lethal White Foal Syndrome is a disease associated with breeds that register white coat spotting patterns. Breedings between particular spotted horses (frame overos) produce some foals that, in contrast to their parents, are all white and die shortly after birth of severe intestinal blockage. In addition to that, horses were identified that were carriers of the defect gene but had no recognized overo coat pattern phenotype. Apart from frame overos the test for the mutant allele is recommendable for the breeds Paint Horse, Pinto Horse and Quarter Horse.
Trait of Inheritance
The Disease Lethal White Foal Syndrome is a disease associated with breeds that register white coat spotting patterns. Breedings between particular spotted horses (frame overos) produce some foals that, in contrast to their parents, are all white and die shortly after birth of severe intestinal blockage. In addition to that, horses were identified that were carriers of the defect gene but had no recognized overo coat pattern phenotype. Apart from frame overos the test for the mutant allele is recommendable for the breeds Paint Horse, Pinto Horse and Quarter Horse. The Trait of Inheritance Lethal White Foal Syndrome is an inherited autosomal recessive trait. This means that a horse can be genetically clear (homozygous normal), affected, or a carrier (heterozygous). The carriers can spread the diseased gene in the population. Therefore, reliable information on non-affected horses 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 horse is noncarrier of the mutant gene.

It is very unlikely that the horse will develop OLWS / LWO ( Lethal White Foal Syndrome-Frame Overo). The horse will never pass the mutation to its offspring, and therefore it can be bred to any other horse.

 

Carrier

Genotype: N / LWO [ Heterozygous ]

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

It is very unlikely that the horse will develop OLWS / LWO ( Lethal White Foal Syndrome-Frame Overo) 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 horses.

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

 

Affected

Genotype: LWO / LWO [ Homozygous mutant ]

 

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

The horse is likely to develop OLWS / LWO ( Lethal White Foal Syndrome-Frame Overo) and will pass the mutant gene to its entire offspring
Description

This is a mutation-based gene test, which offers many advantages over other methods

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 horses, 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.

Sample Requirements
Hair Sample from mane with roots (approx 30 hairs) , Buccal Swabs or 1 ml whole blood in EDTA tube.

How to obtain a viable hair sample

Pull around 30 hairs from the mane of the horse with the roots (in faols hair from the tail maybe taken). Wrap the hairs around your finger or a comb, as close as possible to the skin to ensure you obtain the hair roots. Keep dry, put in a bag, label the bag with the horse name, test (s) required. Place in an envelope and send back to us together with the order form. Broken or cut off hair will not be accepted.
Turnaround
1 - 2 weeks
Price for the above 6 tests
£ 168.00 (including VAT)

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