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L-2-HGA ( L- 2 - hydroxyglutaric aciduria ) L2HGA

Test number: 8125 (this test number replaces the old 8100DGD)
Gene: L-2-HGA
Price: £ 48.00 (including VAT)
Breeds
Staffordshire Bull Terrier , Yorkshire Terrier .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Staffordshire Bull Terrier.

for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying features will not be recorded by the Kennel Club.

In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.

important: When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.

The Disease
L-2-HGA ( L-2-hydroxyglutaric aciduria ) in Staffordshire Bull Terriers is a neurometabolic disorder characterised by elevated levels of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid.

L-2-HGA affects the central nervous system, with clinical signs usually apparent between 6 months and one year (although they can appear later). L-2-LGA produces a variety of neurological deficits, including psychomotor retardation, seizures and ataxia. Symptoms are "wobbly" gait, tremors, muscle stiffness as a result of exercise or excitement and altered behaviour.

Trait of Inheritance
L-2-HGA is inherited as an autosomal recessive trait. So there are three conditions a dog can be: it can be clear or homozygous normal ( genotype N / N ) meaning that it does not carry the mutation and will not develop L-2-HGA. Since it also cannot pass the mutation onto its offspring, it can be mated to any other dog. A dog which has one copy of the gene with the mutation and one copy without the mutation is called a carrier or heterozygous (genotype N / L-2 - HGA); while it will not be affected by L-2-HGA, it can pass the mutation onto its offspring and should therefore only be mated to clear dogs. Affected puppies have two gene copies with the mutation ( genotype L-2-HGA / L-2-HGA 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 dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop L-2-HGA ( L- 2 - hydroxyglutaric aciduria ) L2HGA. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / L-2-HGA [ Heterozygous ]

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

It is very unlikely that the dog will develop L-2-HGA ( L- 2 - hydroxyglutaric aciduria ) L2HGA 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 dogs.

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

 

Affected

Genotype: L-2-HGA / L-2-HGA [ Homozygous mutant ]

 

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

The dog is likely to develop L-2-HGA ( L- 2 - hydroxyglutaric aciduria ) L2HGA 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 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.

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.
Turnaround
1 - 2 weeks

We will run this test 2 independant times on your sample to ensure that the result is 100% accurate

Price
£ 48.00 (including VAT)

To order:




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