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Glycogen Branching Enzyme Deficiency (GBED)

Test number: 8303H

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.

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
£ 48.00 (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)  
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)  
Special Offer 3: CA + LFS + SCID (Save £12)  
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