Direct Genetic Test Now Available for Equine Dun Gene

Dun stallion

Animal Genetics is pleased to announce that Rolf de Kloet has uncovered the specific point mutation that produces the Dun dilution in horse coat color.  Mr. de Kloet’s research is significant because the specific genetic mutation responsible for Dun dilution had not previously been discovered.

The identification of this mutation now allows Animal Genetics to offer a direct DNA test for the Dun gene.  Our test does not rely on genetic markers/ zygosity to indirectly identify the presence of the Dun gene.  Instead, we are able to determine if your horse has zero, one or two copies of the genetic mutation with a simple, straight forward test. Animal Genetics is the first genetic testing lab to be able to test directly for Dun coat color in horses.

“The intensive research conducted in our lab is a valuable contribution to the study of equine genetics, said Arne de Kloet, president of Animal Genetics, Inc. “We are proud to offer our customers the first true test for Dun coat color.”

The Dun gene is dominant, so only one copy is needed to produce color dilution. A horse that has the Dun mutation will have a lightened coat depending on the color of the base coat. A Dun horse will usually also have darker stripes or darkened areas, such as legs, mane and tail, which reflect the underlying base coat color.  A classic or bay Dun horse has a tan coat color with a dark dorsal stripe and a darker mane, tail and legs.  Duns can also be red, with an underlying red or chestnut base coat or blue, with an underlying black coat.

For more information on our new Dun genetic test, please see our Dun Coat Color Testing page.

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The ISAG Profile for Canine and Equine DNA Testing

The International Society of Animal Genetics (ISAG) developed the ISAG Profile to standardize genetic profiles of dogs, horses and other animals. The ISAG Profile is very useful because it allows the results from one lab to be successfully compared with results from any other lab that also utilizes the Profile.

The ISAG Profile is a panel of markers that taken together create a DNA profile. The markers are not meaningful individually.  For example, you cannot tell the lineage, breed or color of a dog or horse from any specific marker. The markers are only a way to create an identifiable DNA profile that is recognized by national and international genetic testing labs.

Not all labs use the ISAG Profile, and in the situation where one lab uses the standardized markers and another does not, it is not possible to compare results.  However, for labs that do use the ISAG Profile, a report from one lab can be compared successfully with reports from another lab for parentage verification or DNA typing.

Animal Genetics, Inc. uses the ISAG Profile for our equine and canine DNA typing and parentage testing services. On top of the standard markers, we use additional industry-approved markers to obtain a more definitive result for our genetic profiles.  Markers that code for the sex of a dog or horse are also included as an internal quality control.

For our canine profiles, we use a marker panel of 21 Loci: AHT121, AHT137, AHTh171, AHTh260, AHTk211, AHTk253, C22-279, FH2054, FH2848, INRA21, INU005, INU030, INU055, REN162C04, REN169D01, REN169O18, REN247M23, REN64E19, REN54P11, AHTH130, and CAN-AMEL.

Our equine panel uses a marker panel consisting of 20 Loci. The panel includes the core ISAG markers, plus additional markers. Our panel includes the following: AHT4, AHT5, HMS1, HMS2, HMS6, HMS7, HTG4, HTG6, HTG7, VHL20, ASB2, HMS3, HTG10, ASB17, ASB23, LEX33, LEX3, CA425, UM011 and AME.

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Supreme Court Ruling Finds Genes Cannot Be Patented

Last week, the United States Supreme Court ruled that genes cannot be patented because they are naturally-occurring and have not been “created” by the patent holder.  Prior to this ruling, companies could patent genes and DNA segments, preventing other companies from conducting genetic testing on these genes.  The ruling makes the existing patents invalid, and clears the way for increased scientific research and more affordable testing.  Synthetically created or altered genes are not affected by the ruling and can be patented.

The specific case that prompted this change is a suit against Myriad Genetics, the company that discovered the specific location and sequence of the genes, BRCA1 and 2. The discovery was important because mutations of these genes are linked to increased risk of breast and ovarian cancer, but only Myriad could legally provide testing services for the mutations because they held the patent on the genes.  Myriad had argued that locating and isolating these specific genes was a creative act and therefore able to be patented.  The Supreme Court, in a unanimous decision, disagreed.  Justice Clarence Thomas, the author of the Supreme Court’s decision stated, “…Myriad did not create anything. To be sure, it found an important and useful gene, but separating that gene from its surrounding genetic material is not an act of invention.”

The Decision also states, “We hold that a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated.” Under the Patent Act, products of nature are not able to be patented. The Court cited the following in its ruling:

“Laws of nature, natural phenomena, and abstract ideas are not patentable. Rather, they are the basic tools of scientific and technological work that lie beyond the domain of patent protection.  As the Court has explained, without this exception, there would be considerable danger that the grant of patents would ‘tie up’ the use of such tools and thereby ‘inhibit’ future innovation premised upon them.”

The Myriad patent was for human genes, but the decision applies to all genes, including animal and plant.  Animal Genetics has always been of the opinion that the mere discovery and isolation of a particulate fragment of DNA was not in itself enough to fulfill the requirements of Section 101 of the Patent Act.   The Supreme Court’s ruling will be beneficial for genetic research going forward, and will reduce the cost of genetic testing as more companies are able to offer these services without fear of patent infringement.

The full Supreme Court Decision can be found here:

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Equine Malignant Hyperthermia (MH)

Malignant Hyperthermia or MH is a genetic muscle disorder that affects Quarter Horses and related breeds.  Horses with the MH mutation may not show any physical signs of the disorder until triggered by exposure to anesthesia or extreme exercise or stress.  Symptoms can include high temperature, increased heart rate, high blood pressure, sweating, acidosis, and muscle rigidity.  Symptoms develop rapidly, and if not treated quickly, this condition can be fatal.

MH is inherited as an autosomal dominant trait, so the disorder can be passed on even if only one parent has the defective gene.  The mutation can be present along with PSSM, and if a horse also has PSSM, the symptoms associated with MH can be more severe. Therefore, testing for both PSSM and MH is recommended for Quarter Horse breeds.

Although this condition is rare, testing for MH is recommended in case a horse must undergo anesthesia.  Horses that are known to have the MH mutation can be given medication prior to administering anesthesia to help reduce the severity of the symptoms.

Animal Genetics offers testing for MH. The cost is $35.00 and the turnaround time is 2-4 business days.  We also test for MH as part of a panel which includes testing for HERDA, HYPP, GBED, and PSSM. The price for the panel is $95.00. Visit our website’s Malignant Hyperthermia page for more information about our test, sample collection guidelines, and a link to the submission form.

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JEB 1 Testing for Belgian Draft Breed and JEB 2 Testing for American Saddlebred

Animal Genetics is pleased to offer tests for the presence of JEB 1 (Junctional Epidermolysis Bullosa) in Belgian Draft horse breeds and JEB 2 in the American Saddlebred breed.  Clients sometimes ask if we can test for JEB in other breeds, but currently we can only test for the presence of JEB in American Saddlebred, Belgian Draft, and related draft horse breeds. Quarterhorses, for example, cannot be tested for JEB.

JEB is a fatal genetic defect that affects the skin, hair and hooves of newborn foals. Shortly after birth, patches of hair and skin loss begin to form on the foal’s body, and affected foals will die or be euthanized within about 8 days of birth. Both parents must be carriers of the JEB mutation for a foal to be affected, so testing can be used to avoid mating affected horses.

If you have previously submitted a sample for other tests, we can use that sample for JEB testing. For more information about our JEB tests or if you would like to add the JEB test to a previously submitted sample, please call us toll free at (866) 922-6436.  The cost for the test is $35.

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Request for Known Affected Dog Samples for Pelger-Huet Anomaly

Help Animal Genetics Battle This Disease and Get Credit for a Free Canine Test

Due to an increase in the number of Australian Shepherds, as well as other breeds, being diagnosed with Pelger-Huet anomaly, Animal Genetics is interested in finding the genetic basis for this inherited disease. We hope to develop a DNA test that is cost effective, doesn’t require a vet visit, and can be performed using non-invasive cheek swab samples.

You can help Animal Genetics develop this test by sending a sample from a dog affected by Pelger-Huet Anomaly along with any available documentation of this diagnosis.  We welcome samples from all breeds, but samples from Australian Shepherds would be especially helpful.  Collected samples need to be either whole blood samples (100 microliters in an EDTA microtainer tube) or 2 cheek swab samples. We can send the swab kits to you if necessary. To order a swab sample kit, visit the canine test kits page on our website and please indicate in the comments that it is for a sample from a dog affected by Pelger-Huet Anamoly.

As a thank you for your help, we will give a credit for one free canine test of your choice for each affected Pelger-Huet sample submitted. Please see our canine genetic test page for tests we currently offer.swabs used for collecting genetic material for canine DNA tests

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Canine Genetic Testing for Neonatal Encephalopathy with Seizures

Animal Genetics now tests for the gene mutation that causes Neonatal Encephalopathy with Seizures (NEWS) in standard poodles. This fatal disease affects the brain of newborn puppies, causing weakness and seizures and ultimately death within a few weeks of birth.  Neonatal encephalopathy is recessive — both parents must possess the gene mutation in order to produce offspring affected by the disease.  Dogs with one copy of this gene do not show symptoms, but are carriers and can pass the gene to their offspring.

Breeding parents can be screened for the NEWS gene mutation with a DNA test using a cheek swab or blood sample. The test costs $45 and turnaround time is a quick 2 – 4 business days. Please refer to our sample collection instructions for information about collecting canine cheek samples.

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Testing for Equine Polysaccharide Storage Myopathy (PSSM)

Equine Polysaccharide Storage Myopathy, or PSSM, affects many types of horses including quarter horses, paint horses, appaloosas, draft horses and warmbloods. Horses with PSSM are not able to properly convert carbohydrates into energy. The un-metabolized carbohydrates collect in the muscles and cannot be utilized for muscle function.  The result is mild to severe muscle damage or even death, depending on how far the condition has progressed. PSSM is the likely cause of “Monday Morning Disease” — when horses that have taken a day off from exercising have difficulty moving around once they begin exercising again.

PSSM Symptoms

Symptoms of equine PSSM include muscle atrophy, brown urine, stiffness, difficulty getting up, trembling after exercise, and cramping. Horses may not show symptoms for years, so testing will identify the condition before it becomes serious. The chances of recovery are good for horses that carry PSSM but are not showing symptoms – recovery rates decline substantially once horses have problems getting up.

Importance of Identifying PSSM

Although PSSM cannot be cured since it is a genetic disorder, muscle function can be restored with a change in diet and exercise routine.  Eliminating carbohydrates such as grains and sweet feed from the horse’s diet and adding extra fat seems to alleviate the condition. However, the disorder can lead to death if it’s not identified early enough to make the necessary dietary and exercise changes, so it is vital to identify the presence of PSSM as early as possible. Additionally, identifying horses carrying the PSSM allele can assist with breeding draft horses free of PSSM.

Animal Genetics can test for the presence of PSSM alleles using DNA material from the roots of horse tail and mane hairs. To learn more about collecting DNA samples, please see the equine DNA sample collection page on our website.

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Testing for Avian Pox Virus

Animal Genetics offers testing for Avian Pox Virus, a contagious virus that affects a wide variety of domestic and wild birds.  There are two types of this virus – “cutaneous” and “wet.”

Cutaneous pox produces wart-like lesions on parts of the bird that do not have feathers including the feet, eye and beak areas. As they develop, lesions will break open and then form a scab, which can be contagious.  The cutaneous type is usually not fatal, but can cause birds to have difficulty breathing or seeing, depending on the location of the lesions.

Wet pox causes growths to form inside the mouth, throat and lungs and in the mucus areas of the eye.  This form of Avian Pox Virus can cause temporary or permanent damage to the respiratory system and eyesight and can also be fatal.

Both types of Avian Pox Virus will inhibit a bird’s ability to feed, and infected birds can become weak and susceptible to secondary infections.  Younger birds and certain species such as canaries appear to be particularly affected.

The virus is spread by contact with infected birds or with contaminated food, water or objects like birdfeeders, birdbaths, nests, etc.  Mosquitoes who have fed on infected birds can also spread the virus. There is no cure for the virus, so infected birds must be quarantined while they are recovering.  An infected bird will be weak and sick for approximately three to five weeks.

Animal Genetics can provide confirmation of suspected Pox Virus infection by testing a sample collected from a lesion with a cotton swab. The test price is $24.50 and turnaround is currently 5 -7 business days.  For more information about testing for Avian Pox Virus, contact Animal Genetics toll free at (800) 514-9672.

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BVD Virus Testing Now Available for Alpacas, Llamas and Cows

Animal Genetics now offers testing for Bovine Viral Diarrhea (BVD) virus in cows, llamas and alpacas. BVD virus is a contagious pestivirus that can cause diarrhea, as the name suggests, but also discharge from the nose and eyes, oral ulcers, reproductive problems such as infertility, fetal death, and birth defects, lowered immune response and sometimes death.  Whether the effects of the virus are mild or severe depends on the strain of BVD virus and the condition of the animal.

The virus is easily passed between animals and between herds by exposure to secretions, air and manure. Pregnant cows and alpacas that are infected with BVDV can also pass the virus to the fetuses. If infection occurs at certain stages of pregnancy, the resulting calves or crias can develop persistent infection (PI) and will continually infect other members of the herd.

Since an infected animal may not show any symptoms, it is important to test for the virus before bringing new animals into your herd or re-introducing an animal that has come into contact with animals from other, possibly infected herds. Cows, llamas or alpacas that appear ill for no reason should also be tested for BVD virus. There is no cure for the virus at this time, but it can be contained with careful herd management and testing. Because persistently infected calves and crias remain contagious throughout their lifetime, it is especially important to identify and remove them from the herd in order to control the virus.

Animal Genetics tests for the presence of Type I and Type II BVD virus with an rtPCR test using a small blood sample. The blood sample can be collected either on a card or in a vial with an EDTA buffer solution. The turnaround time from receipt of the sample to results is 5 days. For more information on the BVD virus test and pricing, please contact Animal Genetics toll free at (800) 514-9672.

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