Why Genetic Testing is Essential
The Staffordshire Bull Terrier is a generally healthy and robust breed, with a life expectancy of 12-14 years. However, like many purebreds, it has some genetic predispositions that can be completely controlled through DNA testing and responsible breeding.
The two most important genetic conditions in the breed are L2-HGA and HC. Both have been identified, genetically mapped, and reliable DNA tests now exist that allow knowing the genetic status of each dog before breeding.
This means that no puppy should be born sick with L2-HGA or HC, as long as the breeder does the tests and plans matings correctly.
L2-HGA: What It Is and How It Manifests
L-2-hydroxyglutaric aciduria (L2-HGA) is a neurological metabolic disease first identified in the Staffordshire Bull Terrier in 2003 by researchers at the British Animal Health Trust.
The Genetic Cause
L2-HGA is caused by a mutation in the L2HGDH gene. The disease is inherited in an autosomal recessive manner:
- A dog can be CLEAR (healthy, no copies of the mutated gene)
- A dog can be CARRIER (healthy carrier, one copy of the mutated gene)
- A dog can be AFFECTED (sick, two copies of the mutated gene)
Symptoms
L2-HGA symptoms typically appear between 6 months and the first year of life. Clinical signs include:
- Epileptic seizures (often the first symptom noticed)
- Ataxia (lack of coordination in movements)
- Tremors, especially when excited or stressed
- Muscle stiffness
- Learning difficulties and behavioral changes
The disease is progressive and incurable. Affected dogs have compromised quality of life.
HC (Hereditary Cataract): What It Is
Hereditary Cataract (HC) is an eye condition that causes lens opacity and, if untreated, can lead to blindness.
HC is also caused by a specific genetic mutation, identified in the HSF4 gene. Like L2-HGA, it is inherited in an autosomal recessive manner.
Hereditary cataract in the Staffy tends to develop at a relatively young age (from 1-2 years). Unlike L2-HGA, cataracts can be surgically treated with good results, but surgery is expensive and requires demanding post-operative care.
How Genetic Tests Work
Sample Collection
The test only requires a DNA sample, which can be obtained via:
- Buccal swab: The most common method. A cotton swab is rubbed inside the dog's cheek to collect cells. Painless and can be done at home.
- Blood sample: Performed by a veterinarian.
Accredited Laboratories
- Animal Health Trust (UK) - The lab that developed both tests (now part of The Kennel Club)
- Laboklin - German laboratory
- Optigen - American laboratory
- Embark - Complete genetic test
Interpreting Results
| Result | Meaning | Can Breed? |
|---|---|---|
| CLEAR | No copies of mutated gene. Dog is healthy and won't transmit disease. | ✅ Yes, with any partner |
| CARRIER | One copy of mutated gene. Dog is healthy but can transmit gene. | ✅ Yes, but ONLY with CLEAR partner |
| AFFECTED | Two copies of mutated gene. Dog will develop disease. | ❌ No, should not breed |
🧬 Mating Genetics
CLEAR × CLEAR = 100% CLEAR puppies
CLEAR × CARRIER = 50% CLEAR, 50% CARRIER (all healthy)
CARRIER × CARRIER = 25% CLEAR, 50% CARRIER, 25% AFFECTED ⚠️
What to Ask the Breeder
When looking for a Staffordshire Bull Terrier puppy, genetic testing is one of the fundamental criteria for evaluating breeder seriousness.
Documents to Request
- Original L2-HGA and HC test certificates for BOTH parents
- Certificates must be issued by recognized laboratories
- Check that names and microchips match those of the actual parents
🏆 Our Commitment
At Del Piccolo Diavolo kennel, ALL our breeding dogs are tested CLEAR for both L2-HGA and HC. We provide test certificates with every puppy. This is our commitment to puppy health and the breed's future.