DNA Test

Canine Genetic Health Screen Test , the variants that we tested for, that are relevant to My breed (Labrador Retrievers):

    NOTE .....Since these are recessive disorders only one parent needs to be Tested as Normal/Clear on these DNA test. ( Just never breed 2 carriers together to make a pup affected.) (no pups will be affected if Nomal or clear only 2 carriers) .But I do test my Males and females to take every precaution.

A genetic test is not a diagnosis- genetic Breed Health test does not diagnose a disease, It's about following the carriers to breed the disease or condition out of your breed. By not breeding two carriers together.

 

1)Centronuclear Myopathy (PTPLA) 

  What is Centronuclear Myopathy, CNM ? This muscle disorder is characterized by exercise intolerance, weight loss, and muscle wasting. CNM stems from a mutation in the PTPLA gene which codes for an enzyme important for a number of cellular processes. Loss of PTPLA function is thought to cause muscle fiber damage and death, leading to replacement of the muscle mass with scar tissue.

 

2)Congenital Macrothrombocytopenia (TUBB1 Exon 1, SNP745)

 What is Congenital Macrothrombocytopenia ? This is a benign disorder of platelet production that leads to abnormally large, sparse platelets.

 

3)Degenerative Myelopathy,DM SOD1

 What is DM ? The dog equivalent of Amyotrophic Lateral Sclerosis, or Lou Gehrig’s disease, DM is a progressive degenerative disorder of the spinal cord. Because the nerves that control the hind limbs are the first to degenerate, the most common clinical signs are back muscle wasting and gait abnormalities.

 

4)Exercise-Induced Collapse (DNM1)

What is EIC ?  EIC has been linked to a mutation in the DNM1 gene, which codes for the protein dynamin. In the neuron, dynamin trucks neurotransmitter-filled vesicles from the cell body, where they are generated, to the dendrites. It is hypothesized in dogs affected with EIC, the mutation in DNM1 disrupts efficient neurotransmitter release, leading to a cessation in signalling and EIC.

 

5)Hereditary Nasal Parakeratosis (SUV39H2)

What is HNPK ?  This condition causes the skin of the nose to be overly thick and shingle-like, which can be uncomfortable for your dog.

6)Hyperuricosuria and Hyperuricemia or Urolithiasis, HUU (SLC2A0 (Exon 5 )

What is HUU ?  This condition causes kidney and bladder stones composed of urate. In most dogs, uric acid is converted to allantoin, an inert substance that is then excreted in the urine. Dogs with HUU have defects in the pathway that converts uric acid to allantoin. As such, uric acid builds up, crystallizes and forms urate stones in the kidney and bladder. Uric acid is an intermediate of purine metabolism. While hyperuricemia in other species (including humans) can lead to painful conditions such as gout, dogs do not develop systemic signs of hyperuricemia.

7)Macular Corneal Dystrophy, MCD (CHST6)

What is MCD ?  This condition causes abnormal corneal accumulation of complex carbohydrates called glycosaminoglycans. The cornea is the surface of the eye.

8)Narcolepsy (HCRTR2 Intron 6)

What is Narcolepsy ?  A neurologic condition characterized by daytime sleepiness and fragmented sleep cycles, affected dogs also exhibit episodes of cataplexy, a sudden complete loss of muscle tone in response to strong positive emotions. All known genetic mutations for canine narcolepsy lie in the Hypocretin receptor 2 (HCRTR2) gene. Hypocretin is a neurotransmitter involved in the regulation of appetite, arousal, and wakefulness.

9)Oculoskeletal Dysplasia 1, Dwarfism-Retinal Dysplasia, OSD1 (COL9A3, Labrador Retriever  Exon1)

10)Progressive Retinal Atrophy, prcd (PRCD Exon 1)

What is PRA-prcd ?  PRA-prcd is a retinal disease that causes progressive, non-painful vision loss. The retina contains cells, called photoreceptors, that collect information about light and send signals to the brain. There are two types of photoreceptors: rods, for night vision and movement, and cones, for day vision and color. This type of PRA leads to early loss of rod cells, leading to night blindness before day blindness.

11)Pyruvate Kinase Deficiency (PKLR Exon 7 SNP Variant 1 Labrador Variant)

What is Pyruvate Kinase Deficiency ?  This is a disease of red blood cells characterized by low energy level, jaundiced skin, and pale and cool extremities. Dogs affected with PKD have red blood cells that have impaired ability to produce energy, leading to breakdown of important cell processes that contribute to form and function.

12)Skeletal Dysplasia 2, SD2 (COL11A2) 

What is SD2 ?  A disease of skeletal development, this causes dogs to have abnormally short legs but similar body lengths compared to unaffected dogs.

13)Achromatopsia (CNGA3 Exon 7 Deletion Labrador Retriever Variant)

What is Achromatopsia ?  Achromatopsia is a progressive, non painful disorder of the retina that affects color vision and light perception. Cone cells not only register color, they allow the dog to adjust their eyes to bright light. Dogs with this disease constantly feel like us when we step out of a movie theater. Night vision remains completely unaffected.

14)Alexander Disease (GFAP  Exon7 Deletion)

What is Alexander Disease ?  Astrocytes, named for their characteristic star-like shape, are supportive cells of the central nervous system. Astrocytes surround neurons, the functional unit of the central nervous system, nourishing, protecting, and repairing them from stress or injury, as well as enhancing their function. In Alexander disease, astrocyte function is compromised.

15)Canine Elliptocytosis (SPTB Exon 30)-

What is Canine Elliptocytosis ?  A benign disease that affects red blood cell (RBC) shape, elliptocytosis affected dogs have elongated, oval or elliptical red blood cells instead of the normal round, "biconcave" shape.

16)Congenital Myasthenic Syndrome (COLQ)

What is Congenital Myasthenic Syndrome, CMS ?  This is a non-progressive disease characterized by episodes of exercise intolerance and weakness

17)Golden Retriever Progressive Retinal Atrophy 2, GR-PRA2 (TTC8)Exon 8) I guess it also runs in Labradors but named after goldens,because they have it as a disease for labradors.

What is GR-PRA2 ?  Golden Retriever PRA 2 is a retinal disease that causes progressive, non-painful vision loss. The retina contains cells, called photoreceptors, that collect information about light and send signals to the brain. There are two types of photoreceptors: rods, for night vision and movement, and cones, for day vision and color. This type of PRA leads to early loss of rod cells, leading to night blindness before day blindness.

18)Myotubular Myopathy 1, X-linked Myotubular Myopathy, XL-MTM  Exon 7 (MTM1, Labrador Variant)

What is XL-MTM ?  This is a degenerative muscle disease that stems from a deficiency in the protein myotubularin, which is thought to be important for the development and maintenance of muscle cells. Loss of myotubularin causes muscle fiber damage and death, leading to replacement of the muscle mass with scar tissue.

19)Progressive Retinal Atrophy - crd4/cord1 (RPGRIP1) Exon 2

What is PRA-crd4/cord1 ?  PRA-CRD4/cord1 is a retinal disease that causes progressive, non-painful vision loss over a 1-2 year period. The retina contains cells, called photoreceptors, that collect information about light and send signals to the brain. There are two types of photoreceptors: rods, for night vision and movement, and cones, for day vision and color. This type of PRA leads to early loss of cone cells, causing day blindness before night blindness.