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5 Panel + Overo: PSSM1, GBED, HERDA, HYPP, MH, and Frame Overo

160,00 

→ Combo-Package testing: PSSM1, GBED, HERDA, HYPP, MH, and Frame Overo for Paint Horses and related breeds.


Instructions for ordering:

  1. Enter the information of the first horse for which you want to order the test
  2. Add to cart
  3. Go to cart to check out, or
  4. Enter the information for a second horse
  5. For sample collection follow the instructions here.
  6. You can use this template to send in hair samples.
  7. Please also send the completed order form together with the samples.

For a breeder or veterinarian discount please contact us before ordering.

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PSSM1

Polysaccharide Storage Myopathy Type 1

General Information:

  • Degenerative muscle disease that manifests itself as a disorder of the sugar metabolism of the muscles.
  • Symptoms usually occur during/shortly after physical exercise.
  • Excessive activity of the enzyme glycogen synthetase 1 → Abnormal accumulation of glycogen granules in muscle cells.

Symptoms:

  • Reluctance to move
  • Atactic gait/coordination problems
  • Muscle tremors
  • Frequent tying up/tension
  • Excessive sweating
  • Gait changes (cross firing or disunited canter/bunny hopping/rope walking)

Inheritance: incomplete autosomal dominant/semidominant
→ Horses with one or two copies of the variant (n/P1 or P1/P1) are affected. Incomplete or semidominant means that animals with one copy (n/P1) may show milder symptoms and a later age of onset than animals with two copies (P1/P1).

Possible genotypes:

Genotype: The horse is: Effects:
n/n normal. The horse does not have any copy of P1 and therefore cannot pass it on to any offspring.
n/P1 affected (heterozygous). The horse has one copy of P1 and will pass it on to approximately 50% of its offspring. These 50% are at risk of developing PSSM1.
P1/P1 affected (homozygous). The horse has two copies of P1 and will pass it on to 100% of its offspring. All offspring will be at risk of developing PSSM1.

Recommendations:

  • Affected horses (n/P1 or P1/P1) should only be bred after careful consideration and with the advise of a genetic expert and veterinarian. Please contact us for consultation and support.

Test information: This Panel test identifies a mutation in the GYS1 gene.
This test is performed by partner laboratory.

McCue, ME., Valberg, SJ., Lucio, M., Mickelson, JR.: Glycogen synthase 1 (GYS1) mutation in diverse breeds with polysaccharide storage myopathy. J Vet Intern Med 22:1228-33, 2008. Pubmed reference: 18691366. DOI: 10.1111/j.1939-1676.2008.0167.x.

McCue, ME., Valberg, SJ., Miller, MB., Wade, C., Dimauro, S., Akman, HO., Mickelson, JR.: Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics 91:458-66, 2008. Pubmed reference: 18358695. DOI: 10.1016/j.ygeno.2008.01.011.

Further information is available at Online Mendelian Inheritance in Animals.

GBED

Glycogen Storage Disease IV

General Information:

  • Foals may die shortly after birth due to organ failure (liver or heart).
  • Glucose cannot be stored as Glycogen → lack of nourishment in muscles and organs.
  • Affected foals usually die within the first 8 weeks.

Symptoms:

  • Spontaneous abortions
  • Weakness
  • Low body temperature
  • Accelerated breathing
  • Tremors

Inheritance: autosomal recessive

→ Only animals with two copies of the genetic variant (gbed/gbed) are affected. Animals with only one copy (N/gbed) are clinically normal carriers.

Possible Genotypes:

Genotype The horse is:
Effects:
N/N normal. The horse has no copies of the genetic variant causative for GBED/GSD IV and therefore cannot pass it on to its offspring.
N/gbed a carrier. The horse is clinically healthy. The genetic variant causative for GBED/GSD IV will be passed on to its offspring with a probability of 50%.
gbed/gbed affected. The horse is affected and will not live long enough to reproduce.

 

Recommendations:

  • Carriers may be bred to normal animals (N/gbed x N/N) without any risk of producing affected offspring. The offspring should also be tested before breeding to determine if they are carriers or normal.
  • Breeding two carriers (N/gbed x N/gbed) is not recommended due to the possibility of 25% of the offspring being affected.

Test information: This test detects a single basepair change in exon 1 of the GBE1 gene.

Ward TL, Valberg SJ, Adelson DL, Abbey CA, Binns MM, and Mickelson JR. (2004). Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. Mamm Genome 15, 570-577.

Further information is available at Online Mendelian Inheritance in Animals.

HERDA

Hereditary Equine Regional Dermal Asthenia

General Information:

  • First symptoms may be seen at the age of 1,5 years.
  • Areas under pressure (saddle, etc.) are particularly affected, and the skin traumas heal very slowly.
  • Affected horses are usually euthanized due to poor quality of life.
  • Defect in the connective tissue results in skin splitting, tearing and separating from underlying layers.

Symptoms:

  • Loose sloughing skin
  • Lesions and ulcerations/cysts especially in dorsal area
  • Slow healing
  • Hyperelastic skin

Inheritance: autosomal recessive

→ Only animals with two copies of the genetic variant (herda/herda) are affected. Animals with only one copie (N/herda) are clinically normal carriers.

Possible Genotypes:

Genotype The horse is:
Effects:
N/N normal. The horse has not copies of the genetic variant causative for HERDA and therefore cannot pass it on to its offspring.
N/herda a carrier. The horse is clinically normal. The genetic variant causative for HERDA will be passed on to its offspring with a probability of 50%.
herda/herda affected. If the horse lives long enough to reproduce, the genetic variant causative for HERDA will be passed on to all offspring. All offspring will be clinically normal carriers (N/herda).

 

Recommendations:

  • Carriers may be bred to normal animals (N/herda x N/N) without any risk of producing affected offspring. The offspring should also be tested before breeding to determine if they are carriers or normal.
  • Breeding two carriers (N/herda x N/herda) is not recommended due to the possibility of 25% of the offspring being affected.
  • Affected animals (herda/herda) should not be used for breeding.

Testinformation: This test detects a single basepair change in exon 1 of the Peptidylprolyl Isomerase B (PPIB) (or Cyclophilin B) gene.

Tryon RC, White SD, Bannasch DL. Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse. Genomics. 2007 Jul;90(1):93-102. DOI: 10.1016/j.ygeno.2007.03.009.

Further information is available at Online Mendelian Inheritance in Animals.

HYPP

Hyperkalemic Periodic Paralysis

General Information:

  • Varies in severity.
  • May be life-threatening when heart or lungs are affected by paralysis.
  • Symptoms may occur more frequently after changes in diet, stress or transportation.
  • Improper signalling between brain and muscles/organs.
  • Symptoms may be reduced with potassium-deficient diet (avoid Lucerne/Alfalfa in hay)
  • Can be traced back to the sire “Impressive”.

Symptoms:

  • General weakness
  • Periodic tremors and paralysis
  • Respiratory noise
  • Heavily muscled

Inheritance: autosomal dominant

→ Horses with one or two copies of the variant (n/HYPP or HYPP/HYPP) are affected.

Possible Genotypes:

Genotype The horse is:
Effects:
n/n normal. The horse has no copies of the genetic variant causitive for HYPP and therefore cannot pass it on to its offspring
n/HYPP affected (heterozygous). The horse is affected. The genetic variant will be passed on to its offspring with a probability of 50%. These foals will be affected.
HYPP/HYPP affected (homozygous). The variant will be passed on to all of its offspring. All offspring will also be affected.

 

Recommendations:

  • Affected animals (n/HYPP or HYPP/HYPP) should not be used for breeding.

Testinformation: This test detects the change in the SCN4A gene.

Rudolph, J. A., Spier, S. J., Byrns, G., Rojas, C. V., Bernoco, D., & Hoffman, E. P. (1992). Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding. Nature Genetics, 2(2), 144-147. doi: 10.1038/ng1092-144.

Further information is available at Online Mendelian Inheritance in Animals.

MH

Malignant Hyperthermia

General Information:

  • MH causes skeletal muscles to degenerate, which is associated with low blood pH (acidemia).
  • MH may worsen symptoms of PSSM (Polysaccharide Storage Myopathy).
  • In 34% of cases, MH results in death of the affected horse. Therefore, horses should be tested, especially prior to surgery or medical treatment.
  • Symptoms are not only triggered by anesthetics but also by stress and/or exercise.

Symptoms caused by halogenated anesthetics or stress:

  • Hyperthermia (fever)
  • Muscle rigidity
  • Respiratory distress
  • Excessive sweating
  • Increased hematocrit
  • Increased heart rate

Inheritance: autosomal dominant

→ Horses with one or two copies of the variant (MH/n or MH/MH) are affected.

Possible Genotypes:

Genotype The horse is:
Effects:
n/n normal. The horse has no copies of the genetic variant causative for MH and therefore cannot pass it on to its offspring.
MH/n affected (heterozygous). The genetic variant will be passed on to the offspring with a probability of 50%. These 50% will be affected (heterozygous).
MH/MH affected (homozygous). The genetic variant will be passed on to all offspring. All offspring will be affected (heterozygous).

 

Recommendations:

  • Affected horses (MH/n or MH/MH) should not be used for breeding.

Test information: This test detects a single basepair change in exon 46 of the RYR1 gene.

Aleman, M., Riehl, J., Aldridge, BM., LeCouteur, RA., Stott, JL., Pessah, IN.: Association of a mutation in the ryanodine receptor 1 gene with equine malignant hyperthermia. Muscle Nerve 30:356-65, 2004. Pubmed reference: 15318347. Doi: 10.1002/mus.20084.

Aleman, M., Nieto, JE., Magdesian, KG.: Malignant hyperthermia associated with ryanodine receptor 1 (C7360G) mutation in Quarter Horses. J Vet Intern Med 23:329-34, 2009. Pubmed reference: 19220734. Doi: 10.1111/j.1939-1676.2009.0274.x.

McCue, ME., Valberg, SJ., Jackson, M., Borgia, L., Lucio, M., Mickelson, JR.: Polysaccharide storage myopathy phenotype in quarter horse-related breeds is modified by the presence of an RYR1 mutation. Neuromuscul Disord 19:37-43, 2009. Pubmed reference: 19056269. Doi: 10.1016/j.nmd.2008.10.001

Further information is available at Online Mendelian Inheritance in Animals.

Frame Overo

General Information:

  • Frame is most common in American breeds such as Quarter Horses, Paint Horses, Appaloosas, Miniature Horses, Tennessee Walker Horses and American Saddlebred (“Glenknoll’s Moretosea”-bloodline).
  • Also found in Thoroughbreds in “Patchy Lassy/Nite Spot (Pesty Axe x Torchy’s Rainbow)” and “Blue Gazi” bloodlines and Canadian Sports Horses in the “Outrageous Fortune” bloodline.
  • Great phenotypic variablity → horses with the frame mutation may show the “typical” pattern, or no white at all. For this reason, all horses that may carry frame should be tested before breeding, even if they do not show a white pattern.
  • The white pattern normally has a horizontal orientation (in contrast to the Tobiano pattern) and defined edges. The white rarely crosses over the back.
  • Horses often have a blaze that is wider on the forehead. White around the eye may be associated with the eye being blue.
  • The term “Frame” comes from the appearance of the implies that the white pattern rarely crosses a horse’s back.
  • Horses with two copies of this variant are affected by OLWS and die within few days after birth.

Locus Information: O locus

Inheritance: incomplete autosomal dominant

→ Animals with only one copy of the variant (O/n) will show a less pronounced phenotype than horses with two copies of the variant (O/O). In this case it means that homozygous foals (O/O) will die soon after birth because of the “Overo Lethal White Syndrome (OLWS)”.

Possible Genotypes:

Genotype: Effects:
n/n No Frame Overo mutation.
O/n The horse has one copy of the O variant → pattern with defined edges and big horizontal patches that rarely cross the back. Horses commonly have a white blaze that is wider on the forehead.
O/O The horse has two copies of the O variant → causes OLWS and leads to the death of the homozygous foal within few days after birth.

 

Test information: This test detects a mutation in the EDNRB gene.

Metallinos, DL; Bowling AT; Rine J (June 1998). “A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung Disease“. Mammalian Genome 9 (6): 426–31 Abstract

Further information is available at Online Mendelian Inheritance in Animals.

A Frame Overo pattern with the visible horizontal orientation of white patches and colored back. This horse may also have another white spotting variant, because frame usually does not give this much face white, or socks.

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