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Health Testing

Health testing is an important part of our core values here at Singularity Border Collies. We have a commitment to make sure our dogs and those that we produce are as healthy and clear of all testable genetic diseases. All our puppies go home with a 2 year health guarantee. The health guarantee covers all severe heritable genetic diseases that are not environmentally influenced.

Below we discuss all the health testing we do.

Border Collie Health Testing

Sensory Neuropathy (SN)

Autosomal Recessive

Sensory Neuropathy (SN) Border Collie type is an inherited progressive neurological disorder which affects the Border Collie breed. Generally, neuropathy is a disease of the peripheral nerves. The peripheral nervous system is responsible for sensation feeling to the skin and the muscle control.

A puppy can only be affected by this disease if both parents carry for it and the puppy inherits two copies of the gene. 

Degenerative Myelopathy (DM)

Autosomal Recessive

Degenerative myelopathy is a progressive disease of the spinal cord in older dogs. The disease has an insidious onset typically between 8 and 14 years of age. It begins with a loss of coordination (ataxia) in the hind limbs. The affected dog will wobble when walking, knuckle over or drag the feet.

A puppy can only be affected by this disease if both parents carry for it and the puppy inherits two copies of the gene. 

Dental Hypomineralisation (DH)

Autosomal Recessive

Dental Hypomineralization (DH) is also known as Raine Syndrome. DH is an autosomal recessive disorder that is known to affect Border Collies. This disorder is characterized by extreme wear of the teeth. The only way to treat this condition is by extracting worn teeth.

A puppy can only be affected by this disease if both parents carry for it and the puppy inherits two copies of the gene. 

Imerslund-Gräsbeck Syndrome (IGS)

Autosomal Recessive

Imerslund-Gräsbeck syndrome (IGS) is a disorder found in Border Collies where dietary cobalamin (vitamin B12) is unable to be absorbed through the gut. Symptoms of IGS  typically appear within 6-12 weeks after birth because stored vitamin B12 supplies are depleted.  IGS is a manageable condition with regular B12 or cobalamin supplementation.  

A puppy can only be affected by this disease if both parents carry for it and the puppy inherits two copies of the gene. 

Trapped Neutrophil Syndrome (TNS)

Autosomal Recessive

Trapped Neutrophil Syndrome (TNS) is characterized by a decrease in white blood cells and has been found to be caused by a mutation in the Vesicle Protein Sorting 13B (VPS13B) gene. Affected puppies suffer from chronic infections resulting from a compromised immune system.

A puppy can only be affected by this disease if both parents carry for it and the puppy inherits two copies of the gene. 

Early Adult Onset Deafness (EAOD)

Autosomal Recessive

EAOD (or EOD, EAOD, EOAD) otherwise known as Early Adult Onset Deafness, is a disease that has increased in awareness over the past few years, largely thanks to the use of BAER testing (Brainstem Auditory Evoked Response). Studies have shown that EAOD seems to show up between the ages of 3 to 8 years old, give or take, often starting as unilateral and in most cases, has been known to appear when the dog is in it's prime, about 4-6 years of age.

A puppy can only be affected by or at risk for this disease if both parents carry the markers for it and the puppy inherits two copies of the markers. 

Multi-Drug Resistance 1 (MDR1)

Autosomal Dominant

Multi-Drug Resistance Gene (MDR1) codes for a protein that is responsible for protecting the brain by transporting potentially harmful chemicals away. A mutation occurs in the MDR1 gene that causes sensitivity to Ivermectin, Loperamide, and a number of other common drugs. Dogs with this mutation have a defect in the P-glycoprotein that is normally responsible for transporting certain drugs out of the brain. The defective protein inhibits the dog's ability to remove certain drugs from the brain, leading to a buildup of these toxins. As a result of the accumulation of toxins, the dog can show neurological symptoms, such as seizures, ataxia, or even death.

Puppies are affected with just one copy of this gene. 

Neuronal Ceroid Lipofuscinosis (NCL)

Autosomal Recessive

Neuronal ceroid lipofuscinosis (NCL) is a group of progressive degenerative diseases of the central nervous system. It results from the accumulation of granules in the neurons of the brain and spinal cord. This progressive neurological disorder manifests as behavioral changes coupled with a loss of coordination and blindness.

A puppy can only be affected by this disease if both parents carry for it and the puppy inherits two copies of the gene. 

Collie Eye Anomaly (CEA)

Autosomal Recessive

Collie Eye Anomaly (CEA) is a inherited bilateral eye disease common in a number of breeds of dogs. The disorder causes abnormal development in layers of tissue in the eye under the retina called the choroid.

A puppy can only be affected by this disease if both parents carry for it and the puppy inherits two copies of the gene. 

Goniodysgenesis and Glaucoma (GDD)

Autosomal Recessive

Goniodysgenesis and glaucoma in Border Collie is a hereditary disorder affecting the eyes. Glaucoma can be divided into two categories, primary and secondary glaucoma. Primary glaucoma is characterized by its onset without any other ocular cause, while secondary glaucoma appears when another cause is present, which triggers glaucoma. Primary open angle glaucoma is the most common type of canine primary glaucoma. Goniodysgenesis, also known as mesodermal dysgenesis, is an abnormality of the anterior chamber of the eye, and it has been associated with glaucoma and blindness.
 

A puppy can only be affected by this disease if both parents carry for it and the puppy inherits two copies of the gene. 

Brainstem auditory evoked response (BAER)

Brainstem auditory evoked response (BAER) testing is an electro-diagnostic test used to evaluate the hearing of dogs. It evaluates the components of the external ear canal, middle/inner ear cavities, cranial nerve and selected areas of the brainstem. We use BAER testing for early diagnosis of hearing loss secondary to cochlear agenesis/degeneration and make sure to breed only dogs that are normal.

Orthopedic Foundation for Animals (OFA)

The Orthopedic Foundation for Animals (OFA) is one governing body for reviewing and grading orthopedic x-rays. For Hips, The x-ray is evaluated by three veterinarians (which differ and/or rotate after a period of time), who each give an opinion ranging from Excellent to Severe. Excellent, Good, and Fair evaluations receive an OFA number as passing (no hip dysplasia). Borderline, Mild, Moderate and Severe evaluations indicate a degree of abnormality is evident and those dogs do not receive OFA an certification number. They also grade elbows dysplasia in terms of Normal or not.

However, breeding two OFA certified dogs is in no way a guarantee that their puppies will be clear of hip dysplasia. In fact, two OFA Excellent dogs can produce dysplastic offspring. Hip dysplasia is a polygenetic disease, meaning many genes are involved as well as diet, exercise, and environment.

PennHIP

PennHIP is concentrated on research, education, and improvement. ALL dogs x-rayed for PennHIP are entered into the database and become part of their research, thus there is no false indication of improvement as there can be when the submission of x-rays is voluntary, and most people choose not to send in x-rays of affected dogs, so those dogs never contribute to the statistics.

PennHIP evaluation can be done as young as 16 weeks of age, although waiting longer does give a more accurate indication. Three x-rays are taken in three different positions, and hip joint laxity is physically measured from those x-rays. In more than 30 years of PennHIP research, hip joint laxity has been proven to be the best indicator of whether a dog may develop degenerative joint disease (arthritis / hip dysplasia). Hip joint laxity as seen in PennHIP's distraction view is an expression of the dog's genetic makeup, and remains the same throughout the dog's life, from approximately 16 weeks on. This method has also shown that breeding dogs to improve the hip joint laxity does help improve hips in dogs of succeeding generations. Dogs are rated from 0 (no laxity) to 1 (total laxity).

 

Each breed has a median score, which for Border Collies is currently .47 (the median score can adjust slightly as more dogs are added to the database). A score of .30 or less is a strong indication that dog is highly unlikely to develop hip dysplasia.

However, breeding two PennHIP certified dogs is in no way a guarantee that their puppies will be clear of hip dysplasia. Two dogs that are rated well on PennHIP can still produce dysplastic offspring. Hip dysplasia is a polygenetic disease, meaning many genes are involved as well as diet, exercise, and environment.

British Veterinary Association (BVA)

This Hip Dysplasia Scheme was established by BVA and the Kennel Club in 1965 to reduce the incidence and severity of the condition. The scheme uses X-rays to screen for signs of abnormalities (irregular or poorly shaped hip joints) caused by hip dysplasia. X-rays are reviewed and scored by BVA-appointed expert veterinary surgeons. Each hip is graded separately and given a number between 0 and 53 for a total of 106. Lower the number the better the score. 

However, breeding two BVA certified dogs is in no way a guarantee that their puppies will be clear of hip dysplasia. Two dogs that are rated well on BVA can still produce dysplastic offspring. Hip dysplasia is a polygenetic disease, meaning many genes are involved as well as diet, exercise, and environment.

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