Genetic (DNA) tests

more... » Genetic (DNA) tests

GENETIC (DNA) TESTS FOR BORDER COLLIES

  • Collie Eye Anomaly (CEA)

Collie Eye Anomaly (CEA) is an eye disease where the layer in the eye supplying blood and nutrients to the retina is thinner than normal, resulting in visual defects in more severely affected dogs. CEA is most commonly found in breeds of herding descent.
Age of Onset: At birth. Present at birth.
Key Signs: Choroidal hypoplasia, Colobomas, Impaired vision, Bleeding inside the eye, Retinal detachment, Blindness
Inheritance: Autosomal Recessive.
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are called carriers, and although they are not at risk for development of the disorder, they may pass the disease variant on to their puppies if bred.

Likelihood of the Condition: Moderate.
At risk dogs may show signs of this disease in their lifetime, although some will not develop the condition due to absence of additional risk factors.

  • Neuronal Ceroid Lipofuscinosis (NCL)

Neuronal Ceroid Lipofuscinosis (NCL) is a neurological disease, with typical signs of rapidly progressing vision impairment, ataxia (uncontrolled movements), and behavioral changes, such as anxiety, sound sensitivity, and inability to recognize familiar individuals.
Age of Onset: 0 to 2 yrs. Juvenile onset
Key Signs: Vision impairment, Ataxia, Behavioral changes, Seizures
Inheritance: Autosomal Recessive.
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are called carriers, and although they are not at risk for development of the disorder, they may pass the disease variant on to their puppies if bred.
Likelihood of the Condition: High.
At risk dogs are highly likely to show signs of this disease in their lifetime.

  • Trapped Neutrophil Syndrome (TNS)

Trapped Neutrophil Syndrome (TNS) is a disorder of the white blood cells first identified in Border Collies.
Age of Onset: 0 to 2 yrs. Juvenile onset
Key Signs: Neutropenia, Myeloid hyperplasia, Chronic infections, Abnormal craniofacial features, Delayed development
Inheritance: Autosomal Recessive
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are called carriers, and although they are not at risk for development of the disorder, they may pass the disease variant on to their puppies if bred.
Likelihood of the Condition: High
At risk dogs are highly likely to show signs of this disease in their lifetime.

  • Raine Syndrome/Dental Hypomineralization (RS/DH)

​​Dental Hypomineralization is a disease that causes abnormal mineralization of the teeth, resulting in a brownish discoloration and abnormal wear of the teeth.
Age of Onset: 0 to 2 yrs. Juvenile onset
Key Signs: Abnormal tooth wear, Pulpitis, Teeth loss, Severe tooth hypomineralization
Inheritance: Autosomal Recessive.
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are called carriers, and although they are not at risk for development of the disorder, they may pass the disease variant on to their puppies if bred.
Likelihood of the Condition: High
At risk dogs are highly likely to show signs of this disease in their lifetime.

  • Imerslund-Gräsbeck Syndrome (IGS)

Imerslund-Gräsbeck Syndrome or Intestinal Cobalamin Malabsorption is a metabolic disorder resulting from a failure to absorb vitamin B12 in the small intestine of the gut causing retarded growth, a low count of the oxygen carrying red blood cells (anemia), and a low count of white blood cells (immune system cells).
Age of Onset: 0 to 2 yrs. Juvenile onset
Key Signs: Growth retardation, Anemia, Neutropenia, Loss of appetite
Inheritance: Autosomal Recessive
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are called carriers, and although they are not at risk for development of the disorder, they may pass the disease variant on to their puppies if bred.
Likelihood of the Condition: High
At risk dogs are highly likely to show signs of this disease in their lifetime.

  • Sensory Neuropathy (SN)

​​Sensory neuropathy is a rare, severe neurological disorder caused by the degeneration of nerve cells. Affected dogs lack pain sensation, resulting in injury and self harm.
Age of Onset: 0 to 2 yrs. Juvenile onset
Key Signs: Uncoordinated gait, Knuckling of hindpaws, Self-mutilation
Inheritance: Autosomal Recessive
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are called carriers, and although they are not at risk for development of the disorder, they may pass the disease variant on to their puppies if bred.
Likelihood of the Condition: High
At risk dogs are highly likely to show signs of this disease in their lifetime.

  • Progressive Retinal Atrophy (PRA)

Progressive Retinal Atrophy (PRA) causes the light sensitive photoreceptor cells in the eye to degenerate, leading to night blindness.
Age of Onset: 1 to 4 yrs. Junior to adult onset
Key Signs: Retinal degeneration, Night blindness, Vision loss
Inheritance: Autosomal Recessive
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are called carriers, and although they are not at risk for development of the disorder, they may pass the disease variant on to their puppies if bred.
Likelihood of the Condition: Moderate-high
At risk dogs are likely to show signs of this disease in their lifetime.

  • Degenerative Myelopathy (DM)

Degenerative Myelopathy (DM) is a neurological disorder, usually affecting dogs in their senior years. Loss of hind limb coordination is an early sign of disease, and as the condition progresses the hind limbs of affected dogs become increasingly weak.
Age of Onset: 7 + yrs. Senior to geriatric onset.
Key Signs: Proprioceptive deficits, Knuckling hind feet, Muscle wasting, Paresis, Incontinence
Inheritance: Autosomal Recessive
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are called carriers, and although they are not at risk for development of the disorder, they may pass the disease variant on to their puppies if bred.
Likelihood of the Condition: Low-moderate
At risk dogs may show signs of this disease in their lifetime, although many will not develop the condition due to absence of additional risk factors.

  • Myotonia Congenita (MC)

Myotonia Congenita is a muscle disorder affecting dogs from birth. The condition causes affected dogs to have muscles that contract and cramp easily.
Age of Onset: 0 to 2 yrs. Juvenile onset
Key Signs: Delayed muscle reaction, Stiff movements, Hypertrophic skeletal muscles, Bunny-hop-like movement
Inheritance: Autosomal Recessive
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are called carriers, and although they are not at risk for development of the disorder, they may pass the disease variant on to their puppies if bred.
Likelihood of the Condition: High
At risk dogs are highly likely to show signs of this disease in their lifetime.

  • MDR1 Medication Sensitivity

The MDR1 gene mutation causes a defect to a drug pumping protein that plays an important role in limiting drug absorption and distribution (particularly to the brain). Dogs with the MDR1 mutation may have severe adverse reactions to some commonly used medications.
Age of Onset: At birth
Present at birth
Key Signs: Some medications may cause prolonged sedation, stupor, coma, seizures.
Inheritance: Autosomal Dominant
For autosomal dominant disorders, dogs with one or two copies of the disease variant are at risk of developing the condition. Inheriting two copies of the risk variant may make the risk higher or the condition more severe. They may produce puppies affected with the disorder if bred.
Likelihood of the Condition: High
At risk dogs are highly likely to show signs of this disease in their lifetime.

  • Goniodysgenesis and Glaucoma - Discovered in the Border Collie (GG)

Goniodysgenesis and glaucoma is an eye disorder where the pressure inside the eye increases to higher than normal levels, and can lead to eye damage and blindness.
Age of Onset: 1 to 4 yrs. Junior to adult onset
Key Signs: Goniodysgenesis, Glaucoma, Vision Loss
Inheritance: Autosomal Recessive
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are called carriers, and although they are not at risk for development of the disorder, they may pass the disease variant on to their puppies if bred.
Likelihood of the Condition: Moderate
At risk dogs may show signs of this disease in their lifetime, although some will not develop the condition due to absence of additional risk factors.

  • Early Adult Onset Deafness For Border Collies only (EAOD)

Early Adult Onset Deafness is a disease of gradual hearing loss affecting both ears. This test is a linkage test and relevant for the Border Collie breed only. The disease causing variant has not yet been identified.
Age of Onset: 1 to 4 yrs. Junior to adult onset
Key Signs: Hearing loss, Deafness
Inheritance: Autosomal Recessive
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are called carriers, and although they are not at risk for development of the disorder, they may pass the disease variant on to their puppies if bred.
Likelihood of the Condition: Low-moderate
At risk dogs may show signs of this disease in their lifetime, although many will not develop the condition due to absence of additional risk factors.

*Optimal Genetic (www.wisdompanel.com)


Facebook