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1 ) Factor VII Deficiency
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Breeds
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Airedale Terrier
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Alaskan Klee Kai
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Beagle
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Finnish Hound
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Giant Schnauzer
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Papillon (Continental Toy Spaniel )
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Scottish Deerhound / Deerhound
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Welsh Springer Spaniel
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Beagle.
for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published
as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s
microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying
features will not be recorded by the Kennel Club.
In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.
important:
When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.
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The Disease |
Factor VII deficiency is a mild bleeding disorder caused by lack of factor VII (proconvertin) which plays a role in the blood clotting system. Affected dogs bruise easily and nosebleeds maybe seen. There is often prolonged bleeding after surgery or trauma and, in the cases of major surgical procedures or trauma, bleeding maybe severe.
The condition may go unnoticed for long time and discovered only when a surgery is performed or if the dog had an accident, in both cases increased bleeding will be noticed which can be difficult to control. Your vet will suspect a bleeding disorder.
Disease can be managed with the infusion of Frozen Fresh Plasma (FFP). In case of surgery , blood transfusion should be considered.
Please note that Scottish Deerhound can also suffer aother bleeding disorder known as Delayed postoperative hemorrhage (DEPOH) and in fact it is possible for a Scottish Deerhound to be affected with both problems. |
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Description |
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Recently, the mutation responsible for this condition has been identified by Dr Urs Giger and researchers at the University of Pennsylvania. The test is now available at LABOKLIN. Factor VII deficiency follows a recessive trait of inheritance, the test identify a dog as affected (2 copies of the abnormal gene), clear (0 copies of the abnormal gene) or carrier (1 copy of the abnormal gene). Only affected dogs with two copies of the affected gene will develop the disease. Since this is am autosomal recessive condition, carrier dogs will not develop the disease but will pass the mutation to their offspring.
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Trait of Inheritance |
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Factor VII Deficiency follows an autosomal recessive mode of inheritance.
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop Factor VII Deficiency. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / FVII [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the dog will develop Factor VII Deficiency but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%. Carriers should only be bred to clear dogs. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: FVII / FVII [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The dog is likely to develop Factor VII Deficiency and will pass the mutant gene to its entire offspring
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2 ) PFK Deficiency (Phosphofructokinase deficiency / PFKD)
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Breeds
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American Cocker Spaniel
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Cockapoo (American)
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English Springer Spaniel
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German Spaniel (Wachtelhund)
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Whippet
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in English Springer Spaniel.
for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published
as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s
microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying
features will not be recorded by the Kennel Club.
In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.
important:
When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.
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The Disease |
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Muscle type phosphofructokinase deficiency is an inherited glycogen storage disease. It is caused by a nonsense mutation, which leads to a lack of phosphofructokinase subunits or activity. Without the PFK enzyme muscle cells and erythrocytes are not able to produce enough adequate energy for their needs. Therefore affected dogs display the following intermittent, clinical signs: weakness, lethargy, exercise intolerance, poor performance, muscle cramps, anaemia, jaundice and dark-coloured urine. Dark-coloured urine, a hallmark of this disorder, usually appears after strenuous exercise or after excessive barking, panting or heat exposure and is caused by the destruction of the erythrocytes.
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Description |
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This is a mutation-based gene test, which offers many advantages over other methods
The genetic defects leading to Phosphofructokinase Deficiency in the English Springer Spaniels has been identified. By DNA testing the responsible mutation can be shown directly. This method provides a very high test accuracy and can be done at any age. It offers the possibility to distinguish not only between affected and normal / unaffected dogs but also to identify clinically healthy carriers.
This is an essential information for controlling the disease in the breed as carriers are able to spread the disease in the population but can not be identified by means of common laboratory diagnostic. If a particularly valuable dog turns out to be a carrier, it can be bred to a clear animal, and non-carrier puppies saved for the next round of breeding.
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Trait of Inheritance |
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Phosphofructokinase Deficiency is inherited in an autosomal recessive trait. This means that an English Springer Spaniel can be genetically clear (also called homozygous normal), a carrier (also called heterozygous) or affected concerning the Fucosidosis and Phosphofructokinase Deficiency respectively. Especially the carriers can spread the diseased gene in the population. Therefore reliable information of dogs that do not carry disease genes is the key to controlling this disease.
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop PFK Deficiency (Phosphofructokinase deficiency / PFKD). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / PFKD [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the dog will develop PFK Deficiency (Phosphofructokinase deficiency / PFKD) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%. Carriers should only be bred to clear dogs. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: PFKD / PFKD [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The dog is likely to develop PFK Deficiency (Phosphofructokinase deficiency / PFKD) and will pass the mutant gene to its entire offspring
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3 ) PK Deficiency (Pyruvate Kinase Deficiency)
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Breeds
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Basenji
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Beagle
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Cairn Terrier
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Labrador Retriever
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Pug
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West Highland White Terrier
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The Disease |
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Pyruvate kinase (PK) is an enzyme critical to the anaerobic glycolytic pathway of energy production in the erythrocyte. If erythrocytes are deficient in PK they are unable to sustain normal cell metabolism and hence are destroyed prematurely. This deficiency manifests as an hemolytic anemia of variable severity with a strong regenerative response. In dogs, the anemia is always severe (PCV 10-20%) whereas in cats the anemia shows a regenerative response. Also associated with the disease in dogs but not cats is a progressive myelofibrosis and osteosclerosis of unknown etiology and this feature, along with liver failure, is the major cause of death in affected dogs.
The life expectancy of affected dogs is shortened and most die before 4 years of age.
PK deficiency has been recognized in both dogs and cats. The dog breeds involved are the Basenji, Beagle, Dachshund, Eskimo, West Highland White Terriers and the Beagle. In cats, PK deficiency has been described in Abyssinian and Somali cats, as well as DSH cats. The feline disease differs from the canine disease in that affected cats can have a normal life span, only intermittently have anemia, and do not seem to develop either osteosclerosis or liver failure. In all breeds the disease is inherited as an autosomal recessive condition. Heterozygotes (carriers) do not have any clinical signs of disease and lead normal lives. They are able to propagate mutations throughout the population however and it is therefore important that carrier animals be detected prior to breeding.
PK deficiency can be detected, using molecular genetic testing techniques, in the Basenji, Beagle, Pug, Labrador Retriever, West Highland White and Cairn Terriers and the Beagle. These tests identify both affected and carrier animals. It is also possible to identify animals deficient in PK activity through enzyme analysis in those breeds where a molecular genetic test is not available.
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Clinical Signs |
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The clinical signs of disease reflect the anemic status of the animal and include exercise intolerance, weakness, heart murmur and splenomegaly. The anemia is macrocytic, hypochromic and highly regenerative in dogs. Radiographs reveal generalized abnormalities in bone density including intramedullary mineralisation of the long bones suggestive of progressive osteosclerosis in dogs.
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Trait of Inheritance |
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PK Deficiency is inherited in an autosomal recessive trait.
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop PK Deficiency (Pyruvate Kinase Deficiency). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / PK [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the dog will develop PK Deficiency (Pyruvate Kinase Deficiency) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%. Carriers should only be bred to clear dogs. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: PK / PK [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The dog is likely to develop PK Deficiency (Pyruvate Kinase Deficiency) and will pass the mutant gene to its entire offspring
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4 ) Cobalamin Malabsorption (Imerslund-Gräsbeck syndrome (IGS))
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Breeds
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Beagle
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Border Collie
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Komondor
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Beagle, and Border Collie.
for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published
as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s
microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying
features will not be recorded by the Kennel Club.
In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.
important:
When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.
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The Disease |
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Cobalamin malabsorption (merslunf-Gräsbeck Syndrome (IGS)) refers to a genetic disorder by which the vitamin B12, also known as cobalamin, fails to be absorbed from the intestine. Lack of cobalamin leads to changes in the hematopoietic system and to neurological symptoms due to irreversible damage of the brain and nervous system. Symptoms include anorexia, lethargy and failure to gain weight. Cobalamin malabsorption can be managed by supplementation with regular doses of cobalamin.
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Trait of Inheritance |
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recessive trait of inheritance
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop Cobalamin Malabsorption (Imerslund-Gräsbeck syndrome (IGS)). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / IGS [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the dog will develop Cobalamin Malabsorption (Imerslund-Gräsbeck syndrome (IGS)) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%. Carriers should only be bred to clear dogs. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: IGS / IGS [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The dog is likely to develop Cobalamin Malabsorption (Imerslund-Gräsbeck syndrome (IGS)) and will pass the mutant gene to its entire offspring
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Price
for the above 4 tests
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£ 150.00 (including VAT)
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