Health Testing - What I Test For and Why
More and more information has become available to breeders over the years regarding genetic diseases in different breeds. Siberian Huskies are generally hardy and long-lived dogs, but there are still inherited issues that have been identified in the breed.
While health testing cannot prevent every possible health issue that may arise (every living creature will encounter some kind of unanticipated health issue at least once in their life) it enables me to guarantee I am doing all that I can to produce the healthiest pups possible.
All dogs used in my breeding program, whether they are my own or from an outside kennel, will be tested for Hip Dysplasia and Juvenile Cataracts (at minimum) before I will allow them to be bred. These are the two most common issues in the Siberian Husky, and the Siberian Husky Club of America recommends all dogs be cleared of these issues before breeding.
For my own dogs, I have the eyes, elbows, heart, hips, knees, teeth, and thyroid tested and certified clear of abnormalities with the Orthopedic Foundation for Animals (OFA). My dogs are genetically tested for XL-PRA (X-Linked Progressive Retinal Atrophy), CD (Cone Degeneration), GM1 (Gangliosidosis), DM (Degenerative Myelopathy), 2-DHA (2,8- Dihydroxyadenine Urinary Stones), HUU (Hyperuricosuria), SPS1 (Shaking Puppy Syndrome), and SHPN1 (Siberian Husky Polyneuropathy).
I also thoroughly research the pedigrees behind each of my dogs before breeding, and my dogs are tested through Embark for their genetic COI (coefficient of inbreeding) in order to ensure that the parents of each litter are unrelated enough to maintain a high level of genetic diversity. (In general the closer to 0%, the better. Purebred Siberians can range from as low as 5% to has high as 40% or more, with around 20-30% being considered average, so my goal is to always be below that average by as much as I can.) Each of my dogs' COI percentage is listed on their pages.
All test results will be listed here on my website as well as on the OFA's website or, for the genetic tests, on the website of the lab which performed them.
Health testing can be expensive (at a conservative estimate, these tests can easily add up to $1,000 or more per dog throughout their lifetime, in addition to the expenses of their daily care) but it is worth it to me for the peace of mind, and for the fact that it allows me to offer a lifetime guarantee against many inherited disorders for every puppy born at Kodivaro.
Below is a list of the conditions I test for in my dogs, along with a bit of information about each one. If you have any further questions, please do not hesitate to ask me!
While health testing cannot prevent every possible health issue that may arise (every living creature will encounter some kind of unanticipated health issue at least once in their life) it enables me to guarantee I am doing all that I can to produce the healthiest pups possible.
All dogs used in my breeding program, whether they are my own or from an outside kennel, will be tested for Hip Dysplasia and Juvenile Cataracts (at minimum) before I will allow them to be bred. These are the two most common issues in the Siberian Husky, and the Siberian Husky Club of America recommends all dogs be cleared of these issues before breeding.
For my own dogs, I have the eyes, elbows, heart, hips, knees, teeth, and thyroid tested and certified clear of abnormalities with the Orthopedic Foundation for Animals (OFA). My dogs are genetically tested for XL-PRA (X-Linked Progressive Retinal Atrophy), CD (Cone Degeneration), GM1 (Gangliosidosis), DM (Degenerative Myelopathy), 2-DHA (2,8- Dihydroxyadenine Urinary Stones), HUU (Hyperuricosuria), SPS1 (Shaking Puppy Syndrome), and SHPN1 (Siberian Husky Polyneuropathy).
I also thoroughly research the pedigrees behind each of my dogs before breeding, and my dogs are tested through Embark for their genetic COI (coefficient of inbreeding) in order to ensure that the parents of each litter are unrelated enough to maintain a high level of genetic diversity. (In general the closer to 0%, the better. Purebred Siberians can range from as low as 5% to has high as 40% or more, with around 20-30% being considered average, so my goal is to always be below that average by as much as I can.) Each of my dogs' COI percentage is listed on their pages.
All test results will be listed here on my website as well as on the OFA's website or, for the genetic tests, on the website of the lab which performed them.
Health testing can be expensive (at a conservative estimate, these tests can easily add up to $1,000 or more per dog throughout their lifetime, in addition to the expenses of their daily care) but it is worth it to me for the peace of mind, and for the fact that it allows me to offer a lifetime guarantee against many inherited disorders for every puppy born at Kodivaro.
Below is a list of the conditions I test for in my dogs, along with a bit of information about each one. If you have any further questions, please do not hesitate to ask me!
1. Juvenile Cataracts – Although not extremely prevalent, juvenile cataracts are a fairly common issue plaguing the Siberian Husky and many other Northern breeds, including the Samoyed, Alaskan Malamute, Shiba Inu, and Chinese Shar-Pei, among others. The lens of the dog’s eye develops a thickened, cloudy spot (a cataract), which can range in severity from having no effect on the dog’s vision to resulting in near-blindness. Cataracts can be found in one or both eyes and vary in size from a small, barely visible pinprick only detectable during an eye exam to a cloudiness that covers the entire lens, making the dog’s vision all but useless.
Age of onset varies but is usually between 6-18 months, with some being detected as late as 2-3 years. There is unfortunately no genetic test available for cataracts at this time; the only tool available for breeders is to have their dogs examined annually starting at 12 months of age, for the duration of their show and breeding careers, and avoiding breeding any dogs found to have cataracts. Thankfully the disease does not cause pain, so the prognosis for an affected dog maintaining a high quality of life is great.
Dogs can have their eyes examined at any point in their life, but results are not considered “official” until the dog is at least 12 months of age. An eye exam must be performed by a specialized canine ophthalmologist, and a copy of the report is sent to the OFA for registration. Results are recorded as Normal/Clear (Passing) or will list an eye disorder if one is discovered (Failing).
Age of onset varies but is usually between 6-18 months, with some being detected as late as 2-3 years. There is unfortunately no genetic test available for cataracts at this time; the only tool available for breeders is to have their dogs examined annually starting at 12 months of age, for the duration of their show and breeding careers, and avoiding breeding any dogs found to have cataracts. Thankfully the disease does not cause pain, so the prognosis for an affected dog maintaining a high quality of life is great.
Dogs can have their eyes examined at any point in their life, but results are not considered “official” until the dog is at least 12 months of age. An eye exam must be performed by a specialized canine ophthalmologist, and a copy of the report is sent to the OFA for registration. Results are recorded as Normal/Clear (Passing) or will list an eye disorder if one is discovered (Failing).
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A blue-eyed Siberian with healthy clear eyes.
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A Siberian Husky with severe cataracts in both eyes.
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2. Hip Dysplasia - Hip dysplasia is a hereditary deformity of the hip joint causing the head or “ball” of the femur to line up incorrectly with the hip socket, allowing the joint to slide around to varying degrees and eventually wearing down the bones of both the femoral head and the hip socket. It usually begins with a dog developing a strange gait in the rear or “bunny hopping” when they run and varies in severity, with some dogs showing little or no symptoms and others losing the ability to bear weight on their hind legs without crippling pain. (The latter, unfortunately, usually results in euthanasia due to the negative effect on the dog’s quality of life). It can occur in both hips or, less commonly, only one. Hip dysplasia is a progressive disease, so the condition will worsen over time due to wear and tear from exercise and arthritic changes caused by the bones rubbing together and deforming the joint.
There is a surgery available to replace the faulty hip joint with an artificial joint, but it is costly, painful for the dog during the lengthy recovery process, and not always successful in restoring the joint to a functional state. Overall, the quality of life without treatment tends to be poor.
Hip dysplasia is fairly rare in Siberian Huskies, but there have been enough cases reported to warrant testing.
Dogs can be tested for hip dysplasia starting at age 2 or older. X-rays are taken to view different sides of the joint and those x-rays are sent to the OFA’s veterinary evaluation panel for grading. Hips are graded as Excellent, Good, or Fair (Passing), or as Borderline, Mild, Moderate, or Severe (Failing).
There is a surgery available to replace the faulty hip joint with an artificial joint, but it is costly, painful for the dog during the lengthy recovery process, and not always successful in restoring the joint to a functional state. Overall, the quality of life without treatment tends to be poor.
Hip dysplasia is fairly rare in Siberian Huskies, but there have been enough cases reported to warrant testing.
Dogs can be tested for hip dysplasia starting at age 2 or older. X-rays are taken to view different sides of the joint and those x-rays are sent to the OFA’s veterinary evaluation panel for grading. Hips are graded as Excellent, Good, or Fair (Passing), or as Borderline, Mild, Moderate, or Severe (Failing).
Diagram showing normal vs dysplastic hip joints.
3. Luxating Patella – Luxating patella, aka “slipping kneecaps,” is an inherited condition that results when the bony groove that sits below the dog’s kneecap is too shallow, allowing the kneecap to slide in and out of place to one side or the other, sometimes even dislocating far enough that it has to be surgically repaired. Some affected dogs show little or no symptoms, while others refuse to walk or cry out when they try to run, jump, or climb on or off of obstacles. Some dogs with the condition stand in a “knock-kneed” position when at rest, with the feet and toes turned outward and the knees turned in toward each other.
Luxating patellas can be surgically corrected by a specialized orthopedic veterinary surgeon, but the procedure is costly and not always successful, as well as being painful and requiring long periods of confinement in a crate or at the veterinarian’s office. Overall, the quality of life without treatment is poor.
Dogs can be tested for this condition starting at 12+ months, after the nearby growth plates have closed. The exam is performed in-office by a veterinarian by manipulating the joint to feel if it slips out of position, and no sedation is required. Patellas are graded as Normal (Passing), or Grade I, II, III, or IV (Failing).
Luxating patellas can be surgically corrected by a specialized orthopedic veterinary surgeon, but the procedure is costly and not always successful, as well as being painful and requiring long periods of confinement in a crate or at the veterinarian’s office. Overall, the quality of life without treatment is poor.
Dogs can be tested for this condition starting at 12+ months, after the nearby growth plates have closed. The exam is performed in-office by a veterinarian by manipulating the joint to feel if it slips out of position, and no sedation is required. Patellas are graded as Normal (Passing), or Grade I, II, III, or IV (Failing).
Diagram showing normal knees vs those with luxating patella.
4. Elbow Dysplasia – Elbow dysplasia is a hereditary deformity of the elbow joint. Some affected dogs show no symptoms while others may experience joint stiffness, pain, limping, and eventually being unable to bear any weight on the joint without pain. It can occur in both elbows or, less commonly, only one. It is a progressive disease, so the condition will worsen over time due to wear and tear from exercise and arthritic changes caused by the bones rubbing together and deforming the joint.
Elbow dysplasia is very rare in Siberian Huskies, but there have been cases reported.
Dogs can be tested for elbow dysplasia starting at age 2 or older. X-rays are taken to view different sides of the joint and those x-rays are sent to the OFA’s veterinary evaluation panel for grading. Elbows are graded as Normal (Passing), or Grade I, II, or III (Failing).
Elbow dysplasia is very rare in Siberian Huskies, but there have been cases reported.
Dogs can be tested for elbow dysplasia starting at age 2 or older. X-rays are taken to view different sides of the joint and those x-rays are sent to the OFA’s veterinary evaluation panel for grading. Elbows are graded as Normal (Passing), or Grade I, II, or III (Failing).
Radiograph of a dysplastic elbow.
5. Malocclusion and Missing Teeth - Malocclusion is the word used to describe the upper and lower teeth meeting in an abnormal way. Adult dogs and wolves have 42 teeth (puppies have 28), which need to align in a specific way to allow them to eat efficiently - tearing and ripping with the sharp canines and incisors, and grinding and crushing with the premolars and molars. When the teeth do not align correctly, it can cause a range of issues including difficulty eating, reduced bite strength, increased plaque and tartar, broken or damaged teeth, and eventual tooth decay.
There are several variations of malocclusion, including overbites, underbites, and "parrot mouth," which is a severe overbite. This issue is more common in short-faced breeds or toy breeds which have to fit the same 42 teeth into a smaller mouth, but it does occasionally happen in the Siberian Husky. Siberians should have a "scissors" bite, meaning when the mouth is closed, the upper incisors sit just in front of the lower ones like the blades on a pair of scissors. An "even" bite where the upper and lower incisors are aligned perfectly on top of one another is allowed, but is considered a fault in the show ring, and an underbite or overbite is a severely penalized fault. The alignment of a pup's teeth can be assessed at around 8 weeks. An even bite may correct itself as the dog grows and their jaws change size, and likewise a perfect scissors bite at 8 weeks may become even over time, but generally a pup's bite is a reliable predictor of their adult bite. Misaligned jaws are hereditary, so dogs with malocclusion should never be bred.
Missing or broken teeth are also fairly common in Siberians; they are very active dogs who love to chew and roughhouse, which can lend itself to tooth damage. Some adult dogs also have one or more teeth which fail to grow in, which can be a concern depending on the number and type of teeth missing. One or two missing teeth are not much of a concern if the rest of the teeth are normal and properly aligned, as this can come from several causes and does not affect quality of life in any way. However, any pups these dogs produce should be monitored to make sure the issue is not continually being passed down.
Dogs can be examined for malocclusion from puppyhood, and the condition is easily visible to an experienced breeder or owner. After about 12 months of age the dog can be evaluated for missing adult teeth. To have dentition results certified by OFA, the dog must have their teeth examined and the report signed off by their veterinarian.
There are several variations of malocclusion, including overbites, underbites, and "parrot mouth," which is a severe overbite. This issue is more common in short-faced breeds or toy breeds which have to fit the same 42 teeth into a smaller mouth, but it does occasionally happen in the Siberian Husky. Siberians should have a "scissors" bite, meaning when the mouth is closed, the upper incisors sit just in front of the lower ones like the blades on a pair of scissors. An "even" bite where the upper and lower incisors are aligned perfectly on top of one another is allowed, but is considered a fault in the show ring, and an underbite or overbite is a severely penalized fault. The alignment of a pup's teeth can be assessed at around 8 weeks. An even bite may correct itself as the dog grows and their jaws change size, and likewise a perfect scissors bite at 8 weeks may become even over time, but generally a pup's bite is a reliable predictor of their adult bite. Misaligned jaws are hereditary, so dogs with malocclusion should never be bred.
Missing or broken teeth are also fairly common in Siberians; they are very active dogs who love to chew and roughhouse, which can lend itself to tooth damage. Some adult dogs also have one or more teeth which fail to grow in, which can be a concern depending on the number and type of teeth missing. One or two missing teeth are not much of a concern if the rest of the teeth are normal and properly aligned, as this can come from several causes and does not affect quality of life in any way. However, any pups these dogs produce should be monitored to make sure the issue is not continually being passed down.
Dogs can be examined for malocclusion from puppyhood, and the condition is easily visible to an experienced breeder or owner. After about 12 months of age the dog can be evaluated for missing adult teeth. To have dentition results certified by OFA, the dog must have their teeth examined and the report signed off by their veterinarian.
Diagram of the canine mouth - 20 upper teeth, 22 lower teeth.
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Example of a dog with malocclusion.
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6. Ventricular Septal Defect (VSD) and Heart Murmur - VSD is a congenital defect that develops in-utero, and causes a hole or "shunt" in between the ventricles (lower two chambers) of the heart. Siberian Huskies and English Bulldogs are two breeds known to be particularly predisposed to VSD. Depending on the size of the hole, it can have varying degrees of impact on the dog's life. Some small VSDs close on their own over time, or stay in place but have no noticeable effect on the dog at any point. Larger, more severe VSDs can cause symptoms of congestive heart failure such as pulmonary congestion, exercise intolerance, low oxygen levels and fluid accumulation in the abdomen. Severe VSDs can be corrected surgically, but this is a risky procedure and is not always successful.
There is no genetic test for the condition, and there is not an easily discernible cause for why it appears in some pups and not others. Most dogs with VSD go on to lead perfectly normal lives, but some may require medical management or surgery to preserve their quality of life, so an affected dog should never be bred.
VSD is detectable from birth via auscultation of the heart (examination with a stethoscope), to listen for a holosystolic or crescendo-decrescendo heart murmur. Dogs are either graded Normal (Passing), or if found to have a murmur are graded Abnormal (Failing) and can have further testing performed by a veterinary cardiologist to determine the severity of the defect.
There is no genetic test for the condition, and there is not an easily discernible cause for why it appears in some pups and not others. Most dogs with VSD go on to lead perfectly normal lives, but some may require medical management or surgery to preserve their quality of life, so an affected dog should never be bred.
VSD is detectable from birth via auscultation of the heart (examination with a stethoscope), to listen for a holosystolic or crescendo-decrescendo heart murmur. Dogs are either graded Normal (Passing), or if found to have a murmur are graded Abnormal (Failing) and can have further testing performed by a veterinary cardiologist to determine the severity of the defect.
Graphic displaying an example of a VSD, allowing blood from one ventricle to spill over into the other.
7. Hypothyroidism – Hypothyroidism is a condition resulting from an under-active thyroid gland, slowing down the metabolism and resulting in numerous potential health issues to the dog such as poor coat, lethargy, weight gain, temperamental issues, and reproductive difficulties including reduced fertility or even sterility. The condition is typically diagnosed when a normally active dog begins to act lethargic or gain weight, experiences hair loss or thinning, or develops excessive shedding or scaly skin that was not present before. Hypothyroidism is thankfully easily treatable with fairly inexpensive medication and usually responds well to treatment. However, it is a lifelong condition and is known to be hereditary (except in very rare cases as a result of another illness), so affected dogs should not be bred.
Dogs can be tested for hypothyroidism beginning at 12+ months, using a simple blood test which is sent to a veterinary lab to measure the amount of thyroid hormone in the blood and find out if it falls within the normal range. The thyroid is then graded as either Normal (Passing) or Abnormal (Failing).
Dogs can be tested for hypothyroidism beginning at 12+ months, using a simple blood test which is sent to a veterinary lab to measure the amount of thyroid hormone in the blood and find out if it falls within the normal range. The thyroid is then graded as either Normal (Passing) or Abnormal (Failing).
Dog displaying the thinning, patchy coat and scaly skin that are typical of hypothyroidism.
8. X-Linked Progressive Retinal Atrophy (XL-PRA) – XL-PRA is a genetic condition carried on the X chromosome (hence the term “X-Linked”) that usually begins showing symptoms between the ages of 3 and 5 years. The late onset of disease and the ability for females to be unaffected carriers made the disease very hard to eradicate before gene testing was widely available. Because female dogs carry two X chromosomes, a female can have one normal and one faulty copy of the gene and show no symptoms. However, because a male carries one X and one Y chromosome, any male with a defective X chromosome will be symptomatic. Affected dogs will begin with impaired vision in low light (“night blindness”) before the retinas eventually disintegrate to the point of total blindness. This disease is incurable, but it is now entirely preventable through the use of genetic testing in order to avoid breeding affected animals.
XL-PRA testing is available from birth, and is determined using a genetic sample (either blood or cheek cells) collected and sent to a DNA testing lab. Dogs tested are reported as either Clear (Passing), Carrier, or Affected (Failing).
XL-PRA testing is available from birth, and is determined using a genetic sample (either blood or cheek cells) collected and sent to a DNA testing lab. Dogs tested are reported as either Clear (Passing), Carrier, or Affected (Failing).
Dog showing the damaged retina and cloudy eye associated with XL-PRA.
9. Cone Degeneration (CD) – CD is a genetic disorder causing early degeneration of the light-receptive cells called cones in the dog’s eyes, resulting in an inability to see in bright light (“day blindness”). Symptoms of CD typically appear between 8-12 weeks of age, when the cone cells normally finish developing. The condition does not affect a dog’s vision in dim or dark conditions, and the dog can still maintain a high quality of life if the owner is careful to accommodate them and reserves activities and outings for darker hours of the day. However, this condition is entirely preventable through genetic testing and avoiding breeding affected animals, so it is not a condition any responsibly bred dog should have to endure.
CD testing is available from birth, and is determined using a genetic sample (either blood or cheek cells) collected and sent to a DNA testing lab. Dogs tested are reported as either Clear (Passing), Carrier, or Affected (Failing).
CD testing is available from birth, and is determined using a genetic sample (either blood or cheek cells) collected and sent to a DNA testing lab. Dogs tested are reported as either Clear (Passing), Carrier, or Affected (Failing).
Eye of a dog diagnosed with CD.
10. Gangliosidosis (GM1) – GM1 is an inherited lysosomal storage disorder affecting the enzyme beta-galactosidase, which impairs the dog’s ability to break down certain carbohydrates and store them properly. This causes an over-accumulation of the carbohydrate byproduct GM1, which damages the central nervous system and results in an ataxic (wobbly or drunken) gait, lethargy, weight loss, and loss of balance. It is a progressive condition and 100% lethal, with symptoms usually beginning around 5-8 months of age and death occurring around 1 year of age. The condition is double-recessive and requires 2 carrier or affected parents to produce an affected puppy, and it is entirely preventable through genetic testing and avoiding the breeding of affected dogs.
GM1 testing is available from birth, and is determined using a genetic sample (either blood or cheek cells) collected and sent to a DNA testing lab. Dogs tested are reported as either Clear (Passing), Carrier, or Affected (Failing).
GM1 testing is available from birth, and is determined using a genetic sample (either blood or cheek cells) collected and sent to a DNA testing lab. Dogs tested are reported as either Clear (Passing), Carrier, or Affected (Failing).
Cells taken from a dog with GM1. The dark purple is a granule found in the cytoplasm of the lymphocytes, symptomatic of the disease.
11. Degenerative Myelopathy (DM) – DM is a genetic progressive degeneration of the spinal cord that begins late in the dog’s life, usually between 8-14 years of age. Symptoms can be mild at first, with slight wobbling or weakness in one or both hind legs, and will eventually progress to hind end weakness, knuckling over and walking on the top side of the feet, and eventual inability to move or control the rear end. Dogs who have the disease for a number of years usually develop urinary and fecal incontinence, and with enough time the disease will progress to include front-limb paralysis as well. This condition is thankfully not painful for the dog (the paralysis results in the pain receptors also losing function), so the dog can often still live a good quality life for months or years before the mobility issues become too severe for them to enjoy life anymore. There is a genetic test available for DM, however, so it can be avoided through testing and avoiding breeding of affected dogs.
DM testing is available from birth, and is determined using a genetic sample (either blood or cheek cells) collected and sent to a DNA testing lab. Dogs tested are reported as either Clear (Passing), Carrier, or At Risk (Failing).
DM testing is available from birth, and is determined using a genetic sample (either blood or cheek cells) collected and sent to a DNA testing lab. Dogs tested are reported as either Clear (Passing), Carrier, or At Risk (Failing).
Weakness and "knuckling over" in the hind limbs caused by DM.
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Weak, "sagging" rear end in a GSD affected with DM.
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12. 2,8-DHA Urolithiasis (2,8-DHA) - The APRT gene mutation which causes 2,8-DHA Urolithiasis is found in a small handful of breeds including Siberian Huskies, Tamaskan Dogs, and Native American Indian Dogs. When a dog has 2 copies of this recessive gene mutation, it can lead to an increased risk for the formation of 2,8-Dihydroxyadenine (DHA) stones in the kidneys and bladder, as well as an increased risk of kidney disease. Urinary stones and bladder sludge can result in pain, difficulty urinating, incontinence, and can even require multiple surgeries depending on the size, frequency, and number of stones. Stone formation can sometimes be slowed or reduced with dietary changes and medication, but some dogs with recurrent stones are eventually euthanized due to poor quality of life. Males dogs are more susceptible to complications from 2,8-DHA due to their longer, narrower urethra.
2,8-DHA is an autosomal recessive condition, meaning a dog needs 2 defective copies of the gene to suffer from the disease. However, not all dogs with 2 copies of the gene will show symptoms during their lifetime. Dogs with 1 copy of the gene are considered Carriers, and can still produce affected pups when bred to another Carrier or Affected dog.
Genetic testing for 2,8-DHA is available from birth, and is determined using a genetic sample (either blood or cheek cells) collected and sent to a DNA testing lab. Dogs tested are reported as either Clear (Passing), Carrier, or At Risk (Failing).
2,8-DHA is an autosomal recessive condition, meaning a dog needs 2 defective copies of the gene to suffer from the disease. However, not all dogs with 2 copies of the gene will show symptoms during their lifetime. Dogs with 1 copy of the gene are considered Carriers, and can still produce affected pups when bred to another Carrier or Affected dog.
Genetic testing for 2,8-DHA is available from birth, and is determined using a genetic sample (either blood or cheek cells) collected and sent to a DNA testing lab. Dogs tested are reported as either Clear (Passing), Carrier, or At Risk (Failing).
2,8-DHA urinary crystals
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2,8-DHA Uroliths (bladder stones)
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13. Hyperuricosuria (HUU) - Hyperuricosuria is a genetic disease caused by a mutation in the SLC2A9 gene. It is found in many breeds of dogs, the most famous of which is Dalmatians, but also includes Siberians Huskies and many others. Dogs with HUU produce too much uric acid, which predisposes them to the formation of urate bladder stones. This can cause misery for both dog and owner, as bladder stones and sludge can result in pain, difficulty urinating, incontinence, and can even require multiple surgeries depending on the size, frequency, and number of stones. Stone formation can sometimes be slowed or reduced with dietary changes and medication, but some dogs with recurrent stones are eventually euthanized due to poor quality of life. Males dogs are more susceptible to complications from HUU due to their longer, narrower urethra.
HUU is an autosomal recessive condition, meaning 2 defective copies of the gene are needed to cause symptoms, but not all dogs will show symptoms in their lifetime even with 2 copies. Dogs with 1 defective gene (carriers) can still produce carrier or affected pups when bred to a Carrier or Affected dog.
Genetic testing for HUU is available from birth, and is determined using a genetic sample (either blood or cheek cells) collected and sent to a DNA testing lab. Dogs tested are reported as either Clear (Passing), Carrier, or At Risk (Failing).
HUU is an autosomal recessive condition, meaning 2 defective copies of the gene are needed to cause symptoms, but not all dogs will show symptoms in their lifetime even with 2 copies. Dogs with 1 defective gene (carriers) can still produce carrier or affected pups when bred to a Carrier or Affected dog.
Genetic testing for HUU is available from birth, and is determined using a genetic sample (either blood or cheek cells) collected and sent to a DNA testing lab. Dogs tested are reported as either Clear (Passing), Carrier, or At Risk (Failing).
Urate stones removed from the bladder of a dog
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A sample of urine filled with urate crystals (the kind caused by HUU)
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14. Shaking Puppy Syndrome (SPS1) - Shaking Puppy Syndrome is a genetic neurological condition that begins to manifest in early puppyhood, usually around 2 weeks of age when the dog begins to stand and walk. Pups will have difficulty walking, tremors, and lack of coordination. These symptoms usually disappear within a few weeks, but sudden death was reported before 2 years of age in all affected dogs who have been studied so far.
The mutant SPS1 gene is autosomal recessive and fully penetrant, meaning a dog needs 2 copies in order to be susceptible to the disease and all affected dogs will show some degree of clinical signs in their lifetime. Carriers (dogs with only 1 defective gene copy) will not show symptoms but are capable of producing carrier or affected pups when bred to another carrier.
This gene was recently isolated thanks to dedicated Siberian breeders and researchers at the University of Minnesota, and can now be detected and prevented through genetic testing.
The mutant SPS1 gene is autosomal recessive and fully penetrant, meaning a dog needs 2 copies in order to be susceptible to the disease and all affected dogs will show some degree of clinical signs in their lifetime. Carriers (dogs with only 1 defective gene copy) will not show symptoms but are capable of producing carrier or affected pups when bred to another carrier.
This gene was recently isolated thanks to dedicated Siberian breeders and researchers at the University of Minnesota, and can now be detected and prevented through genetic testing.
MRI images of unaffected vs SPS-affected German Shepherd Dogs
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Tissue and microscope scans of unaffected vs SPS-affected German Shepherd Dogs
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15. Siberian Husky Polyneuropathy (SHPN1) - Siberian Husky Polyneuropathy is a genetic neurological condition that usually begins early in a dog's life and causes weakness in the hind end, ataxia (unstable gait), muscle weakness, and can eventually result in severe muscle tremors. It is believed to be an autosomal recessive condition with partial penetrance, meaning 2 defective copies of the gene are necessary to present with signs of the disease but not every dog with 2 copies will be affected in their lifetime. Dogs with 0 copies (clear) or only 1 copy (carrier) will not have symptoms of the disease, but carriers can produce either carrier or affected pups if bred to other carrier or affected dogs.
Although dogs with SHP can live for some time after onset of symptoms, similar to DM, it almost always leads to euthanasia due to poor quality of life once muscle weakness and atrophy become too extreme.
The SHPN1 gene mutation was recently isolated thanks to dedicated Siberian breeders and researchers at the University of Minnesota and UC Davis, and can now be detected and prevented through genetic testing.
Although dogs with SHP can live for some time after onset of symptoms, similar to DM, it almost always leads to euthanasia due to poor quality of life once muscle weakness and atrophy become too extreme.
The SHPN1 gene mutation was recently isolated thanks to dedicated Siberian breeders and researchers at the University of Minnesota and UC Davis, and can now be detected and prevented through genetic testing.
Tissue samples from the recurrent laryngeal nerve (left) and dorsal nerve root (right) in a dog affected with SHPN. The arrows indicate abnormalities characteristic of the disease.
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