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1 ) PSSM (Polysaccharid Storage Myopathy)
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Breeds
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All Horse Breeds
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American Paint Horse
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Appaloosas
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Draft Breeds
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Quarter Horse (Horse with quarter horse blood)
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Warmblood
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The Disease |
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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.
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Clinical Signs |
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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
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Description |
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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
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Trait of Inheritance |
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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.
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Inheritance : AUTOSOMAL
DOMINANT
trait
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Sample Requirements |
Hair Sample from mane with roots (approx 30 hairs) 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.
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2 ) HERDA (Hereditary Equine Regional Dermal Asthenia)
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Breeds
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Appaloosas
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Paint Horse
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Quarter Horse (Horse with quarter horse blood)
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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. |
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Description |
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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.
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Trait of Inheritance |
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HERDA follows autosomal recessive trait of inheritance
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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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
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Sample Requirements |
Hair Sample from mane with roots (approx 30 hairs) 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.
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3 ) Glycogen Branching Enzyme Deficiency (GBED)
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Breeds
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Appaloosas
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Paint Horse
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Quarter Horse (Horse with quarter horse blood)
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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. |
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Trait of Inheritance |
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Autosomal recessive
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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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
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Sample Requirements |
Hair Sample from mane with roots (approx 30 hairs) 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.
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4 ) Cerebellar Abiotrophy (CA)
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Breeds
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Arabian
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Quarab
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The Disease |
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Cerebellar Abiotrophy (CA) is a genetic neurological disease that affects Arabian horses, it is characterised by lack of balance (Ataxia) and coordination, head tremors, stiff or high stepping gait, hyperreactivity, inability to determine space and distance in addition to other neurological symptoms. The disease develops when the neuron cells in the in the Cerebellum start to die.
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Clinical Signs |
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Most affected foals appear normal at birth, symptoms start to become noticeable at an average age of four months but may appear as early 6 weeks of age or ever earlier. Symptoms include lack of balance (Ataxia), head tremor (intention tremor), hyperreativity, stiff or high stepping gait, wide based stance, apparent lack of awareness of where the feet are (sometimes standing or trying to walk with a foot knuckled over), poor depth perception, and a general inability to determine space and distance. The disease vary in severity, mildly affected horses may live normal life span, others may experience difficulty stepping up and over objects, run into fences, fall easily and injure themselves, sometimes these horses are euthanized.
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Trait of Inheritance |
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Cerebellar Abiotrophy (CA) has a recessive trait of inheritance which means that only horses that carry two copies of the mutation (CA/CA) will be affected by the mutation, carrier horses (N/ CA) will not develop the disease but may pass it on to their offspring, therefore genetic testing is important to control the spread of the disease.
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The horse is noncarrier of the mutant gene.
It is very unlikely that the horse will develop Cerebellar Abiotrophy (CA). The horse will never pass the mutation to its offspring, and therefore it can be bred to any other horse.
Carrier
Genotype: N / CA [ 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 Cerebellar Abiotrophy (CA) 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: CA / CA [ 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 Cerebellar Abiotrophy (CA) and will pass the mutant gene to its entire offspring
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Sample Requirements |
Hair Sample from mane with roots (approx 30 hairs) 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.
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5 ) SCID (Severe Combined Immunodeficiency)
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The Disease |
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Severe Combined Immunodeficiency of Arabian foals is a fatal disease caused by the lack of B- and T-lymphocytes. It is estimated that 2-3% of Arabian foals have SCID. This would suggest that 25% of Arabian horses carry the defect gene.
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Description |
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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.
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Trait of Inheritance |
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Severe Combined Immunodeficiency 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.
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The horse is noncarrier of the mutant gene.
It is very unlikely that the horse will develop SCID (Severe Combined Immunodeficiency). The horse will never pass the mutation to its offspring, and therefore it can be bred to any other horse.
Carrier
Genotype: N / SCID [ 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 SCID (Severe Combined Immunodeficiency) 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: SCID / SCID [ Homozygous mutant ]
The horse carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
Affected horses usually die before reaching the breeding age.
The horse will develop SCID (Severe Combined Immunodeficiency) and will pass the mutant gene to its entire offspring
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Sample Requirements |
Hair Sample from mane with roots (approx 30 hairs) 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.
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Price
for the above 5 tests
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£ 138.00 (including VAT)
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