University of Kentucky College of Agriculture, Food & Environment

 

Gluck Center > Services > Animal Genetic Testing & Research Laboratory

Animal Genetic Testing & Research Laboratory

Testing Services
Price List
Terms and Conditions
Log-in For Client Registries
Lab Location
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Established in 1986, the AGTRL offers a variety of genetic testing services to horse owners and individual breed registries. Our staff are directly accessible to help answer questions regarding sample submission, confirm receipt of samples and answer questions regarding parentage problems. 

Although we maintain an excellent turn around time throughout the year, it is advisable to submit samples prior to the very busy months of September to December.  

The research lab also has an active research program dedicated to genetic research of the horse.  Revenues generated by service contracts help fund: 

- important research on genetic diversity of rare breeds
- development of a genetic map of the horse
- identification of genetic markers for heritable problems in the horse


Photo of AGTRL lab

graphic of horse

Traditional Blood Typing

Description
Submission Form -updated 3/14
Instructions for Collecting Blood Samples
Important Notice about Blood Typing
BLOOD TYPING FOR TWHBEA HORSES
TWHBEA submission form -updated 2/14
--Request Form for Blood Typing Kit

 

graphic of horse

Hemolytic Disease Prevention
(Neonatal Isoerythrolysis, NI)

Description
Submission Form -updated 4/4/13
Instructions for Collecting Blood Samples

graphic of horse

DNA Testing

Description
Submission Form -updated 9/13
Instructions for Collecting DNA Samples

 

graphic of horse

Color Testing

Description
Submission Form and Sample Collection -updated 4/13
Guide to Color Gene Testing

graphic of horse

Disease Mutation Testing:
-- JEB, OLWS, Myotonia

Description
Submission Form and Sample Collection -updated 4/4/13

-- Dwarfism

Description
Submission Form and Sample Collection
-4/10/14

 

graphic of dog

Canine DNA Testing

Description
Submission Form -updated 4/20/13
Instructions for Collecting Cheek Swab Samples
Hereditary Juvenile Cataract Mutation

Traditional Blood Typing

Consists of testing blood samples for 7 blood group and 10 biochemical marker systems.  Uses of blood typing include: 

  • parentage verification
  • paternity testing
  • identification of individual horses in drug testing cases or cases where horses with similar color and markings may have been switched.

Traditional blood typing is used by the majority of breed organizations.  Blood typing consists of testing genetic differences for nearly 40 different factors, including red cell antigens and serum proteins.  The sample required consists of two tubes of blood - one collected in anticoagulant, and one serum tube. 

Red Cell Typing
Unlike the relatively simple human ABO system, the horse has 7 systems, each of which contain a number of specific “factors”.   Because of the variety of possible combinations, red cell typing is very informative for parentage determination.  For each “factor” or red cell antigen that we test for, we must develop our own specific “reagent” or antibody to detect that factor.  Our panel of reagents is screened exhaustively for specificity and reliability in our tests.

Biochemical Polymorphisms
Both serum proteins and red cell proteins are tested for variation (polymorphisms) by several gel electrophoretic techniques.  Ten different systems are tested with these methods, and when combined with the results of the red cell laboratory, provide a profile of an individual horse that can be compared to the blood types of its sire and dam.  When there are no discrepancies between the factors possessed by the sire, dam and foal, we say that the “Parentage Qualifies”.

Important Notice about Blood Typing:

The UKAGTRL will no longer offer regular full blood typing services after December 31, 2012 due to decreasing demand.  Red cell typing will only be performed during April and November in 2014.  All red cell typing samples should be scheduled to arrive during either of those months, including those for blood donor horses.

Testing for biochemical markers (red top tubes) will be performed on a monthly basis in 2014.

We will continue to offer serum screening for NI testing on an as-needed basis.  Red cell typing of mares should be scheduled during April or November.

Please contact Dr. Kathryn Graves at ktgraves@uky.edu with any questions regarding blood typing.

BLOOD TYPING FOR TWHBEA HORSES

As of December 31 2012, the TWHBEA no longer provides contract pricing or kits for blood typing.  BEFORE PROCEEDING PLEASE CONTACT THE TWHBEA to determine what is needed for your horse.  If you must have a horse blood typed for parentage the lab will only accept samples mailed between April 1 to April 15, 2014 and November 1 to November 15, 2014. The cost is $100  and requests for blood typing must be prepaid and submitted with the appropriate form

You must submit a 10 ml draw red top tube AND purple top tube for each sample.  DO NOT USE SERUM SEPARATOR tubes.  If you prefer, the University has a limited supply of tubes available and can provide tubes and a mailer.  The cost is $15.00 and must be prepaid and requested by sending a completed kit request form.

Requests for Red Top Tube conversions will be processed monthly (samples accepted all year) and the cost is $80.  Any vet will be able to supply a red top tube. Use the TWHBEA blood typing submission form (updated 2/14).

Payment may be made by MC/VISA or check payable to THE UNIVERSITY OF KENTUCKY.  Results will be reported to TWHBEA.  You will NOT receive results directly.

Blood typing submission form -updated 3/14
TWHBEA submission form -updated 2/14
Instructions for Collecting Blood Samples

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Hemolytic Disease Prevention (Neonatal Isoerythrolysis, NI)

Hemolytic disease of the newborn, also known as neonatal isoerythrolysis (NI), is a serious problem in newborn foals whose red cell type is incompatible with their dams’.  A foal which inherits a red cell factor from its sire that the dam does not possess, is at risk for this condition which results in the destruction of the foal’s red cells after the foal is born and nurses the mare’s colostrum.  There is no in utero effect, since the antibodies against the foal’s red cells cannot cross the placenta.  However, the colostrum is rich in antibodies, and in mares that are sensitized to a red cell factor, the colostrum can be deadly instead of protective.  The Blood Typing lab offers a serum screening service for mares with a history of NI.  A serum sample is submitted within 30 days prior to the mare’s due date.  If antibody levels to one of several “high risk” factors are elevated, it is essential to prevent the foal from nursing its dam's colostrum, and provide it with a substitute colostrum.  In addition, mares with a known history of NI can be crossmatched to a stallion that does not have the red cell factor to which the mare has become sensitized. That way, the foal cannot inherit the factor from the sire, and will not be susceptible to the mare’s antibodies.

Our NI testing program can prevent this problem by:  

  • crossmatching stallion and mare blood types or
  • testing serum from the mare 30 or less days before foaling

NI Testing submission form -updated 4/4/13
Instructions for Collecting Blood Samples

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Photo of AGTRL labDNA Testing

DNA testing is available to generate DNA types and perform parentage testing. We use a panel of 13 microsatellite markers for standard testing. DNA can be extracted from hair, blood or any tissue. DNA types and Blood types are NOT interchangeable. We cannot perform a parentage analysis on a foal that has been DNA typed but whose parents have been blood typed. However, DNA types can be generated from stored serum samples of horses that were previously blood typed.

DNA Testing submission form -updated 9/30/13
Instructions for Collecting DNA Samples

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Color Testing

Prediction of color can be important to breeders. We offer 8 tests:

Agouti Gene
The A locus can be thought of as the gene that determines if a horse is bay or black, although other genes come into play. A horse that has at least one dominant "A" allele will be bay if it also possesses at least one "E" allele. A horse that is homozygous recessive for "a", that is "aa", will be black if it also possesses a "E" allele. All black horses are "EE or Ee and aa". WHY TEST- If a horse is homozygous for "e", it will have a sorrel or chestnut base coat regardless of what genes it carries at the A locus. Thus a chestnut horse may be able to produce blacks if it carries an "a" allele and is bred to another horse carrying the "a" allele and a "E". If a person has a black horse and wants to know if a breeding to a chestnut horse will produce a black, the black horse needs to tested for the E locus and the chestnut horse needs to be tested for the A locus. A black horse that tests homozygous for "a" must also be homozygous for "E" to produce 100% blacks/bays/buckskins.

Champagne
We now offer the test for the mutation responsible for the Champagne factor in horses.  The mutation was discovered here at the University of Kentucky.  The Champagne gene is a dilution gene often confused with the Cream dilution gene.  Unlike horses carrying a single Cream gene, Champagne horses have pink skin which becomes mottled in exposed areas such as the muzzle.  Also Champagne foals are born with blue eyes that later darken to hazel or brown.  A true black horse can mask the presence of the Cream gene, but a black horse carrying the Champagne gene is generally a chocolate color.  There is no added effect if a horse carries two copies of the Champagne gene, whereas the homozygotes for the Cream gene create a more dilute horse with pink skin (cremellos and perlinos).  Therefore the ability to test for the Champagne gene can distinguish homozygotes from heterozygotes, as well as more clearly determine the genotype of dilute pigmented horses.

Cream (Dilution) Gene
The cream gene, designated Cr, is a dominant dilution gene that causes a reduction in red pigment in the body hair and mane and tail hair. It acts on any base color- therefore a sorrel horse that inherits one copy of the Cr allele is palomino (ee, Cr/cr), a sorrel that inherits a Cr from each parent is Cr/Cr and is a cremello (ee, Cr/Cr). A bay horse that inherits a Cr allele from one parent is a buckskin (E/-, Cr/cr), while one that is homozygous for Cr is a perlino (ee, Cr/Cr). True black horses can mask the presence of the Cr gene, so it is possible for a black horse to produce palominos or buckskins. Cream is a different gene than Dun, which is also a dilution gene. In general, dun horses have a dorsal stripe. WHY TEST- Owners of a black horse with a palomino or buckskin parent may want to determine if the horse carries an unexpressed Cr allele. Horses carrying the champagne gene may be confused with horses carrying the Cr gene-this test will verify if the horses indeed possess the Cr allele. It will also determine if a dun or gray horse may also possess a Cr allele.

E locus (red gene)
The Extension locus is another gene related to color, and determines whether a horse has black “points” as in the bay coat color pattern (the mane, tail, legs and tips of the ears are black).  The allele responsible for this pattern is designated as E, the capital letter indicating it is dominant.  The alternative allele, e, is recessive, and when a horse has two copies of this allele, as in ee, the horse lacks black pigment in the extremities, as in chestnut horses.  For owners of a bay or black horse that want to know if that horse is homozygous for the Extension locus, and thus will always have offspring with black points, a DNA-based test is available.

Gray
We now offer the test for the mutation causing the gray phenotype.  Gray is caused by a dominant mutation, therefore a gray horse has at least one copy of the gray gene.  Gray causes a horse to progressively lighten as it ages, regardless of other color genes the horse possesses.  The ultimate effect is that the horse will become totally white or flea-bitten gray.  The skin remains black unless the horse has other genes that result in pink skin.  The test is useful to determine if a horse with two gray parents is homozygous for the mutation, or if a horse has such a dilute phenotype that it is difficult to determine if it also has the gray mutation.

Sabino
Sabino is a Paint color pattern that is variably expressed and can range from white stockings and a blaze to white leg and face markings and extensive white spreading up from the belly into the body area. The mutation we detect is indicative of the Sabino1 gene. Homozygous sabinos may have more extensive white than heterozygous horses. There is more than one sabino gene so that a horse that appears to have the sabino pattern may test negative for the Sabino1 gene. So far all horses that test positive for Sabino1 have the sabino pattern.

Silver Dapple (Z)
The Silver Dapple mutation results in a chocolate colored horse that has a lighter mane and tail.  It is most commonly found in pony breeds and gaited horse breeds such as the Rocky Mountain Horse.  The mutation requires the presence of at least one E allele to be expressed.  Therefore genetically black or bay horses alone express it if they carry one or two Z alleles.  A chestnut horse (ee) may carry a Z allele, but there is no effect on color. It is thought that horses homozygous for the Z allele have a whiter mane and tail than the heterozygotes.

Tobiano
The lab offers testing to determine homozygosity for the Tobiano (spotted) gene. Since the tobiano color pattern is valued and is dominant, horses that possess two copies of the gene (homozygous) are of special value to breeders, as ALL their offspring will inherit the tobiano color pattern. We no longer perform the serum protein test based on blood types due to its low reliability.  Instead, the University of Kentucky Animal Genetic Testing Lab is proud to offer the most reliable test for the Tobiano spotting pattern yet developed.  Dr. Samantha Brooks of the University of Kentucky discovered an inversion on chromosome 3 that appears to be 100% concordant with the presence of the tobiano pattern.  This test replaces the former double marker test previously offered.  Please be advised that Tobiano testing reports will reflect this change.

Color Testing submission form and Sample Collection -updated 4/13

Guide to Color Gene Testing

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Disease Mutation Testing

We offer 4 tests: Junctional Epidermolysis Bullosa (JEB); Overo Lethal White Syndrome (OLWS); Myotonia; Dwarfism.

Junctional Epidermolysis Bullosa (JEB)

JEB is a condition found in American Saddlebreds and certain other light breeds of horses. It results in a lethal skin condition in affected foals.  The foals must inherit the mutation from both parents.  A test to identify carriers is now available. The mutation was discovered at the University of Kentucky Animal Genetic Testing Lab with support from the American Saddlebred Horse Association.  The mutation for the Saddlebred form of JEB is different than that for the Belgian Horse JEB.  We offer only the Saddlebred JEB test.  Carriers can be safely bred as long as they are not bred to another carrier.  Cost: $50 from blood or hair samples.

Photo of foal affected with JEB
JEB affected foal.
Photo courtesy of the American Saddlebred Horse Association.

Overo Lethal White Syndrome (OLWS)

This is so named because affected foals are all white or near white at birth and have improperly formed rectal tissue resulting in death or requiring euthanasia at a few days of age.  It is caused by a mutation that in the heterozygous form results in a frame overo pattern.  Therefore the color pattern is very desirable for Paint or Pinto horse breeders.  There are no health effects for carriers.  However if two carriers are bred 25% of the foals on average will be homozygous for the mutation and will be affected.  Although most common in Paint horses and Quarter horses, the mutation has been found in Tennessee Walking Horses as well.

Myotonia

An inherited neuromuscular disorder has been identified in New Forest ponies (Wijnberg ID et al., 2011) which is caused by an autosomal recessive mutation in the CLCN1 gene. Carriers of the mutation appear normal, but when two carriers are mated there is a 25% chance that an affected foal will be produced.  Affected foals have abnormal muscle activity and spend more time than usual laying down and also exhibit gait abnormalities.  In cooperation with Dr. Cord Drögemüller in Switzerland, the University of Kentucky Animal Genetic Testing Lab is offering this test. Please see the submission form for instructions on submitting a sample.

Disease Mutation submission form and Sample Collection -updated 4/4/13

 

ACAN Dwarfism Mutations in the Miniature Horse

Four mutations in the ACAN gene have been found in Miniature Horses associated with a dwarf phenotype by John Eberth, MS, working in the lab of Dr. Ernie Bailey here at the University of Kentucky.  It is important to test breeding stock for these mutations because at least one of these mutations is lethal in combination with any of the other mutations causing early pregnancy loss.  Care must also be taken in breeding two horses together that are carriers for Dwarf mutations, as the presence of two mutations in any combination will lead to early abortion or live foals with a range of physical ailments associated with the dwarf phenotype.  Some of these physical ailments seriously affect the health of the horse and include breathing problems, malformed mouths which lead to eating difficulties, and abnormal bone growth leading to chronic soundness issues.

Horses carrying only one of the mutations are normal in appearance, exhibiting the desired stature and proportions the Miniature Horse should possess.  There are four identified mutations, designated D1, D2, D3 and D4.  The normal copy of the gene is designated as N.

The following table summarizes the effects of the various mutation combinations:

Normal phenotype Dwarf phenotype Lethal (aborted/absorbed)
N/D1 D2/D2 D1/D1
N/D2 D2/D3 D1/D2
N/D3 D2/D4 D1/D3
N/D4 D3/D4 D1/D4

 

Examples of Normal Phenotypes

 

Examples of Dwarf Phenotypes
D2/D2 Dwarf D2/D3 Dwarf D2/D4 Dwarf D3/D4 Dwarf D1/D1 Dwarf (aborted)

 

The genotypes D3/D3 and D4/D4 have unknown effects, as no samples with these genotypes have been found so far.

D1 and D2 were the most common mutations found in the pilot study.  Since D1 is lethal in combination with any of the other mutations, it is recommended that D1 carriers (N/D1) only be bred to horses that do not carry any other Dwarf mutation.

Testing: Hair samples may be used for the DNA test for these mutations.  Please see Hair Sample collection instructions on the submission form.  Make sure there are plenty of hairs with bulbs submitted if more than one test is requested. Fees: Full panel of all four mutation tests: $150; any test individually: $40 each.

Dwarfism Mutation submission form and Sample Collection - 4/10/14

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image of dog

Canine DNA genotyping and parentage testing is available using the new ISAG (International Society for Animal Genetics) panel of microsatellite markers. Samples may be submitted as blood or cheek swabs.  Testing is for $40 per dog.  Discounts are available for litter typing and additional sire testing.  Please contact Dr. Graves at 859-218-1193 or ktgraves@uky.edu.

Canine DNA submission form -updated 4/20/13
Instructions for Collecting Cheek Swab Samples

Photo of dog affected with cataracts
Boston Terriers - the dog on the left has early onset juvenile cataracts.

Hereditary Juvenile Cataract Mutation

The University of Kentucky Animal Genetic Testing and Research Lab is now officially licensed by the Animal Health Trust to offer testing for the HSF4 gene mutation.

The cost of the test is $45.

To request a kit of buccal brushes and a submission form, please contact Dr. Graves: ktgraves@uky.edu.

Guide to Juvenile Cataracts in Dogs and the HSF4 Test


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Price List (pdf) for non-contract pricing

Breed organizations qualify for contract pricing. Please contact Dr. Kathryn Graves for more information.

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Terms and Conditions

Lab Location

As of January 2009, the lab is located in the Gluck Equine Research Center.

 

Mailing address:

Animal Genetic Testing & Research Laboratory
108 Gluck Equine Research Center
University of Kentucky
Lexington, KY 40546-0099 USA


(859) 218-1212
(859) 257-5169 - FAX

Contact us

Dr. Kathryn Graves
Director
859-218-1193
ktgraves@uky.edu

For contract information, requests for blood typing kits, NI testing, canine parentage cases, genetic testing in dogs, and questions related to potential research projects.

Karin Davies
kldavi2@uky.edu
859-218-1212

Brock Daugherty
lbdaug1@uky.edu
859-218-1212

For DNA Testing.
Mandy Eakins
m.eakins@uky.edu
859-218-1150
For Color Testing and Blood Typing.

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Maxwell H.Gluck Equine Research Center
Department of Veterinary Science, University of Kentucky
Lexington, Kentucky 40546-0099

Main Office (859) 257-4757
Fax (859) 257-8542