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Special Offer 3: CA + LFS + SCID (Save £12)

Test number: 9505H

1 ) Cerebellar Abiotrophy (CA)
Breeds
Arabian , Quarab .
The Disease
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.
Clinical Signs
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.
Trait of Inheritance
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.

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 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
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.

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 ) Lavender Foal Syndrome (LFS) / Coat Colour Dilution Lethal (CCDL)
Breeds
Arabian , Quarab .
The Disease
Lavender Foal Syndrome (LFS) is a lethal genetic disorder with neurological symptoms found in foals of Arabian horses, it is also known as Coat Colour Dilution Lethal (CCDL).

Affected foals are often delivered with difficulty (Dystocia), at birth, foals are unable to stand or sit upright, they extend their limbs, legs and back rigidly, the head and neck are drawn back, convulsions or spasms and rapid eye movements. it is thought that neurological symptoms are due to brain legion and disturbance of the Central nervous System.

The coat colour of most but not all affected foals is described to be very pale chestnut, lavender or light purple, pewter, pale pink or even silvery . The eyes have been described as grayish brown or having blue tint.

Affected foals will dye, however, they are usually euthanized within few days of birth on humane grounds.

There is no treatment for the disease.

Lavender Foal Syndrome is only found in Arabian horses, particularly in Egyptian Arabian where prevalence is estimated at about 10%.

Trait of Inheritance
The trait of inheritance is Autosomal Recessive which means that only horses with two copies of the mutated gene (LFS/LFS) will be affected by the disease. Horses carrying one copy of the mutated gene and one copy of the normal gene (N/LFS) will not develop the disease but they can pass the mutation to their offspring. Genetic testing enables you to identify clear horses from carriers.

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 Lavender Foal Syndrome (LFS) / Coat Colour Dilution Lethal (CCDL). The horse will never pass the mutation to its offspring, and therefore it can be bred to any other horse.

 

Carrier

Genotype: N / LFS [ 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 Lavender Foal Syndrome (LFS) / Coat Colour Dilution Lethal (CCDL) 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: LFS / LFS [ 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 Lavender Foal Syndrome (LFS) / Coat Colour Dilution Lethal (CCDL) 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.

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 ) SCID (Severe Combined Immunodeficiency)
Breed
Arabian .
The Disease
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.
Trait of Inheritance
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.

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 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

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. 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
Price for the above 3 tests
£ 132.00 (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:
HYPP (Hypercalaemic Periodic Paralysis)  
IMM and MYH1 Myopathy ( MYHM )  
OLWS / LWO ( Lethal White Foal Syndrome-Frame Overo)  
H-JEB (Herlitz Junctional epidermolysis bullosa)  
HERDA (Hereditary Equine Regional Dermal Asthenia)  
PSSM (Polysaccharid Storage Myopathy)  
Cerebellar Abiotrophy (CA)  
Lavender Foal Syndrome (LFS) / Coat Colour Dilution Lethal (CCDL)  
Glycogen Branching Enzyme Deficiency (GBED)  
Equine Malignant Hypethermia (EMH)  
Warmblood Fragile Foal Syndrome (WFFS)  
Hereditary Myotonia / Congenital Myotonia  
Special Offer 1: PSSM + HERDA + GBED + HYPP (Save £54)  
Special Offer 2: PSSM + HERDA + GBED + HYPP + OLWS (Save £90.00)  
Connemara Pony Hoof Wall Separation Disease  
5 Panel test: PSSM + HERDA + GBED + HYPP + EMH (Save £90.00)  
FOAL IMMUNODEFICIENCY SYNDROME (FIS)  
Special Offer Quarab: PSSM + HERDA + GBED + CA + SCID  
Naked Foal Syndrome ( NFS )  
Ocular Squamous Cell Carcinoma (SCC)  
SCID (Severe Combined Immunodeficiency)  

 
 
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LABOKLIN GmbH & Co. KG
ISO / DIN 17025 Accredited Laboratory
© 2007 Laboklin (UK)
125 Northenden Road, Manchester, M33 3HF
Tel. 0161 282 3066