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L-2-Hydroxyglutaric Aciduria      L-2-HGA Test    Code 361

Test Pricing

For breeds: Staffordshire Bull Terrier

Clinical signs/Disease description: 

L-2-hydroxyglutaric aciduria (L-2-HGA) in Staffordshire Bull Terrier is a neurometabolic disorder that produces a variety of clinical neurological deficits, including epileptic seizures, wobbly gait, tremors, and muscle stiffness as a result of exercise or excitement. The clinical signs are typically apparent between 6 months and one year of age but some late onset cases where symptoms do not appear until dogs are older have been observed.  The biochemical hallmark of the disease in affected dogs is the accumulation of the L-2-hydroxyglutaric acid (L-2-HGA) in cerebrospinal fluid, plasma and urine [1]. A diagnostic test of urine for elevated level of L-2-HGA can be used to identify dogs affected by the disease, but it does not allow for the detection of carriers.

(L-2-HGA) mutation based test:

A mutation in the L2HGDH gene causing the L-2-hydroxyglutaric aciduria in the Staffordshire Bull Terrier breed has been identified by scientists from Animal Health Foundation in Great Britain [2]. A DNA-based test has been developed to target the mutation. The L-2-HGA test can be used to determine the genetic status of a dog in respect to the mutation and to make informed decisions about mating schemes to prevent the occurrence of this undesirable neurometabolic disorder in progeny.

The DNA-based L-2-HGA Test allows genotype determination of a tested dog as being:

NORMAL/CLEAR - the dog has two copies of the normal gene and it is not going to develop L-2-hydroxyglutaric aciduria caused by the mutation in the L2HGDH gene. 

CARRIER - the dog has one copy of the normal gene and one copy of the mutation. The dog will not develop clinical signs of the L-2-HGA disease but it will transmit the mutation to about 50% of its progeny.

AFFECTED - the dog has two copies of the L-2-HGA mutation and is expected to develop L-2-hydroxyglutaric aciduria caused by the L-2-HGA mutation, assuming it survives to an appropriate age.

Testing/Breeding recommendations:

L-2-HGA in the Staffordshire Bull Terrier is inherited as an autosomal recessive trait, which means that only dogs that have inherited two copies of the mutant DNA from both parents, will develop this form of L-2-hydroxyglutaric aciduria. Carriers of only one copy of the mutation will not develop the disease.

To avoid producing L-2-HGA-affected puppies, breeders are encouraged to test their dogs before they are bred, and to refrain from breeding two carriers to each other. The table below highlights in yellow the breedings that will NOT produce L-2-HGA-affected pups. These breedings include at least one parent proven "Normal/Clear" by the OptiGen L-2-HGA test. All other combinations are at risk of producing L-2-HGA-affected pups.

 

Expected results for breeding strategies using the
L-2-HGA test

Parent 1
Genotype

Parent 2 Genotype

Normal/Clear

Carrier

Affected

Normal/Clear

All = Normal/Clear

1/2 = Normal/Clear
1/2 = Carrier

All = Carrier

Carrier

1/2 = Normal
1/2 = Carrier

1/4 = Normal/Clear
1/2 = Carrier
1/4 = Affected

1/2 = Carrier
1/2 = Affected

Affected

All = Carrier

1/2 = Carrier
1/2 = Affected

All = Affected

 

References:

1. Abramson CJ, Platt SR, Jakobs C, Verhoeven NM, Dennis R, Garosi L, Shelton GD. 2003. L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers, J Vet Intern Med 17:551-556.

2. Penderis J, Calvin J, Abramson C, Jakobs C. et al. 2007. L-2-hydroxyglutaric aciduria; characterization of the molecular defect in a spontaneous canine model. J Med Genet 44:334-340.

  


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