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Sphynx DNA bundle (HCM4 + Hypokalemia + CMS + Blood groups)
Test number: 8723
Price: £ 72.00 (including VAT) for all 4 tests
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1 ) Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK)
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Breeds
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Australian Mist
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Burmese
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Cornish Rex
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Devon Rex
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Singapura
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Sphynx
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Tonkinese
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The Disease |
Burmese Hypokalemia (Familial Episodic Hypokalaemic Polymyopathy) is a recessive genetic characterized by episodes of low serum potassium levels and high CPK (creatine phosphate kinase, an enzyme that indicates muscle damage). Clinical Symptoms include episodes of skeletal muscle weakness which can affect all muscles of the cat body or it can be restricted to certain muscles. This is mostly seen in the neck muscles, but sometimes it affects the limbs only. As a result affected cats may have problems with walking and holding their head correctly. The disease is not typically fatal and can usually be managed by adding potassium supplements to the diet (consult yuor vet if your cat is affected).
The disease affects Burmese and Burmese related breeds such as Burmilla, Bombay, Cornish Rex, Devon Rex, Singapura, Sphynx, Australian Mist, Tiffanie, and Tonkinese.
The genetic mutation responsible for this disease has been identified by a team of researchers from the University of Bristol (England), the Lyons Feline Genetics Research Laboratory at UC Davis, University of Sydney, Massey University and Justus Liebig University. This discovery has allowed development of a genetic test that allows identification of carrier and affected cats.
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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 cat is noncarrier of the mutant gene.
It is very unlikely that the cat will develop Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / BHK [ Heterozygous ]
The cat carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the cat will develop Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK) 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 cats. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: BHK / BHK [ Homozygous mutant ]
The cat carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The cat is likely to develop Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK) and will pass the mutant gene to its entire offspring
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2 ) Congenital Myasthenic Syndrome (CMS) / Hereditary Myopathy
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Breeds
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Devon Rex
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Sphynx
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The Disease |
Congenital Myasthenic Syndrome (CMS) / Hereditary Myopathy is a genetic disorder that results in congenital muscle weakness in Devon Rex and Sphynx breed cats.
The disease is caused by a an autosomal receissive mutation in the COLQ gene.
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Clinical Signs |
Clinical symptoms include generalized muscle weakness, particularly following exertion, stress or excitement. Affected cats often exhibit the “dog-begging” or “chipmunk” position, usually with the front legs resting on an object. Affected cats unable to resist the effect of the disease by asphyxiation due to choking on food or aspiration pneumonia by two years of age. Signs of the disease can be seen as early as 3 weeks of age and progress slowly but occasionally do become static.
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Trait of Inheritance |
Autosomal Recessive
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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 cat is noncarrier of the mutant gene.
It is very unlikely that the cat will develop Congenital Myasthenic Syndrome (CMS) / Hereditary Myopathy. The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / CMS [ Heterozygous ]
The cat carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the cat will develop Congenital Myasthenic Syndrome (CMS) / Hereditary Myopathy 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 cats. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: CMS / CMS [ Homozygous mutant ]
The cat carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The cat is likely to develop Congenital Myasthenic Syndrome (CMS) / Hereditary Myopathy and will pass the mutant gene to its entire offspring
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3 ) HCM4 ( Hypertrophic Cardiomyopathy HCM 4) in Sphynx
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Breeds
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Canadian Sphynx
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Sphynx
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The Disease |
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Hypertrophic cardiomyopathy (HCM) is one of the most commonly encountered heart disease in cats. This disease is characterized by an abnormal thickening (hypertrophy) of one or several areas of the walls of the heart, usually of the left ventricle. The disease is caused by a variety of genetic anomalies of the cardiac muscle proteins. In cats, this disease is more prevalent in Ragdolls, Maine Coon, oriental breeds (Himalayan, Burmese, Sphynx, Persians) and Devon Rex, but it is also commonly diagnosed in Domestic Short Hair cats. A specific genetic defect has been identified in Ragdolls known as HCM3 and Maine Coon known as HCM1.
Besides HCM1 for the Maine Coon and HCM3 for the Ragdoll cat, HCM4 can now also be tested for the Sphynx. As with the other HCM tests, this variant has been found specifically in the Sphynx. Not all genetically affected cats show symptoms in the course of their life. It is also assumed that besides this variant, there is at least one other, yet unknown, variant affecting this breed, which can cause HCM. There is still no genetic test for HCM for British Shorthair (BKH) cats and other breeds.
Occurrence: The genetic variant seems to be quite common, but the number of samples is low so far.
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Trait of Inheritance |
autosomal dominant with variable penetrance:
Due to the incomplete penetrance of this trait, even if a cat has the genetic mutation, the mutation may not actually penetrate or lead to the development in full disease in that cat and therefore carriers may or may not develop the disease.
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Inheritance : AUTOSOMAL
Dominant with Incomplete Penetrance
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 cat is noncarrier of the mutant gene.
Clear. This indicates that your cat does not carry the genetic mutation associated with Sphynx HCM. However, this does not guarantee that your cat will never develop HCM, as there may be other factors that can cause the disease. It simply means that your cat will not develop HCM due to the known Sphynx DNA mutation
Carrier
Genotype: N / HCM4 [ Heterozygous ]
The cat carries one copy of the mutant gene and one
copy of the normal gene.
Heterozygous (Carrier) This means that your cat carries one copy of the genetic mutation and one normal gene. Due to the incomplete penetrance of this trait, even if a cat has the genetic mutation, the mutation may not actually penetrate or lead to the development in full disease in that cat and therefore carriers may or may not develop the disease.
It is not recommended to exlude heterozygous cats from breeding. Many cats with this genetic makeup may not develop the disease. It might be reasonable to breed these cats with clear cat (N/N), screen the kittens, and aim to select a negative kitten as a future breeding animal. However, we strongly advise against breeding two heterozygous (carriers) cats together, as this could result in homozygously affected offspring, which will definitely pass on the mutation.
Affected
Genotype: HCM4 / HCM4 [ Homozygous mutant ]
The cat carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
Genetically affected: This means that your cat has two copies of the HCM4 genetic mutation. Please note that not all genetically affected cats will develop HCM. To reduce the prevalence of this variant in the breed it is not recommended to breed genetically affected cats.
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4 ) Genetic Blood groups in cats
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update September 2019: LABOKLIN holds the patent for the new improved test, which:
- is validated for all cat breeds except Domestic Shorthair, and
- can now check for more 'b' allele variants than ever before including the b3 which was identified by researchers at Laboklin, and
- can check for the 'c' allele which is resposnible for the AB serotyp, and
- only available at Laboklin
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The Disease |
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The AB system is the major blood group system in domestic cats. The common blood
types are A and B. Cats with bloodtype B have anti-A antibodies at a high titer and
cats with blood type A have anti-B antibodies at a low titer. Cats with the rare AB
blood type do not have anti-A or anti-B antibodies. These natural antibodies can leed to bloodgroup incompatibility that can be lethal. The condition is known as Neonatal isoerythrolysis (NI), first symptoms are dyspnea, vomiting and agitation.
A recent study at Laboklin identified a number of new variants involved in determining the different blood groups in cats. Our Genetic Blood Group DNA test has now been updated with the new variants and as a result we can now screen all cat breeds except Domestic Shorthair for genetic blood groups. The updated test can detect the 'b' mutation which is reposnible for blood group 'B' more accurately than before and in more breeds, and the 'c' mutation which is repsonsible for blood group 'AB' in Ragdoll and Bengal can now be detected.
The test is valid for all cat breeds except: Domestic Shorthair.
The new improved test is more comperhensive than any other commercially available tests.
Neonatal isoerythrolysis (NI): Neonatal isoerythrolysis occurs when kitten with blood group A or AB (also known as C) are born to a queen with blood type B. A-type and AB-type kittens absorb the anti-A antibodies from the breast milk. The hemolytic disease that ensues can be lethal.
This incompatibility reaction, especially important for breeders, is neonatal isoerythrolysis (NI). Neonatal isoerythrolysis in cats, also called fading kitten syndrome, is a dissolution of the red blood cells.
Only new born cats with blood groups A or AB (also known as C) whose mother has blood group B are affected by NI. In pedigree catteries, neonatal isoerythrolysis may occur in first-born and multiparous queens with blood group B, if they are mated to toms having blood groups A or AB (also known as C).
The kittens, with blood group A and AB (also known as C), which were born healthy, however, take up the mother's antibodies with the colostrum. These bind to the erythrocytes, which are then destroyed. Anaemia, excretion of protein in the urine and jaundice are the consequences, so that the kittens usually die within the first week of life. In some cases, the intestinal barrier is already closed at the time of birth, so that the absorption of the immunoglobulins by the kitten is prevented. Therefore, some theoretically at-risk kittens may not develop neonatal isoerythrolysis. Thus, not all kittens with blood groups A and C whose mother is type B develop NI.
Good to know Blood type B kittens whose mothers have blood group A do not develop NI. This is due to the low anti-B antibody titre in blood group A queens.
As a rule, new born kittens with clinical symptoms cannot be treated successfully. However, neonatal isoerythrolysis can be prevented by determining the blood groups of possible breeding partners in advance and avoiding mating between queens with blood group B and toms with types groups A or AB (also known as C). However, if such mating does occur, the kittens with blood groups A or AB (also known as C) should be separated from their type B mother immediately after birth and should be hand-fed for the first 24-48 hours to prevent them from ingesting colostrum containing high levels of anti-A antibodies, which can cause NI. After this period, the intestinal barrier will be closed and kittens can safely return to the queen and nurse as usual.
For the genetic blood group determination, Laboklin requires either an EDTA blood sample (0.5 - 1 ml) or 2 cheek swabs. The sample run time after sample arrival is approx. 3-5 working days.
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Description |
The differences between blood types is determined by the activity of cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH). CMAH is only active in type A erythrocytes and either absent or non-functional in type B red blood cells. This inactivity is caused by different mutations in the CMAH gene.
The original mutation which is causative for blood type B was found by Leslie A. Lyons research team and allows for correctly identifying 86 % of all type B cats which still left 14 % of serological type B cats misidentified, especially Ragdolls and Turkish Angora cats.
Our own research shows that additional screening for two other novel mutations correctly identifies 99% of all type B cats. By determining just these two novel variants all type A and B Ragdolls were identified correctly. These two mutations were also found to be causative for blood type B in Turkish Angora, Neva Masquerade, Scottish Fold as well as Domestic Shorthair cats
Leslie A. Lyons research team found another variant in CMAH which is responsible for blood type C (AB) in Ragdolls. We found that this specific mutation is not exclusively found in Ragdolls even though it is rare in other breeds. Type C Bengal cats could also be correctly identified by this mutation and it was also found in British Shorthairs, Maine Coons and Scottish Fold cats.
Since 2017 we practice a genotyping scheme with four variants, three of those to identify blood type B cats correctly and one additional to include the most common variant for blood type C.
The test now detects three genetic variants for the 'b' allele (268T>A, 179G>T, 1322delT) and one variant for the 'c' allele (364C>T).
The 3 'b' variants are also known as b1, b2, and b3.
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Price
for the above 4 tests
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£ 72.00 (including VAT)
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See also: |
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HCM 1 (Hypertrophic Cardiomyopathy)
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HCM4 ( Hypertrophic Cardiomyopathy HCM 4) in Sphynx
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HCM (Hypertrophic Cardiomyopathy HCM3/HCR)
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PKD (Feline Polycystic Kidney Disease)
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PK Deficiency (Pyruvate Kinase Deficiency)
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rdAc-PRA (Progressive Retinal Atrophy )
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SMA (Spinal Muscular Atrophy )
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Serological Evaluation of blood Groups
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Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK)
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Head Defect (BHD)
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Alpha-Mannosidosis (AMD)
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Congenital Myasthenic Syndrome (CMS) / Hereditary Myopathy
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Gangliosidosis GM1
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Gangliosidosis GM2
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Gangliosidosis GM2
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Mucopolysaccharidosis Type VI (MPS VI MPS6)
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Mucopolysaccharidosis type VII (MPS VII / MPS7)
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Myotonia Congenita (Fainting Goat)
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pd - Progressive Retinal Atrophy (pd-PRA)
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Progressive Retinal Atrophy (rdy-PRA)
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Hypotrichosis and Short Life Expectancy
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Progressive Retinal Atrophy in Bengal (PRA-b / b-PRA)
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Special Offer: HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups
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Osteochondrodysplasia (Scottish Fold Osteodystrophy)
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Primary Congenital Glaucoma (PCG)
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Cystinuria (Feline Cystinuria) (CY)
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Persian DNA bundle (PKD + pd-PRA + AMD + Blood Groups)
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British Short / Long Hair DNA bundle (PKD + pd-PRA + ALPS + Blood Groups)
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Burmese DNA bundle (Hypokalemia (BHK) + Head Defect + Gangliosidosis (GM2) + Blood Groups
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Birma DNA bundle (PKD + pd-PRA + Hypotrichiose + MPS6 + Blood Groups)
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Bengal DNA bundle (rdAc-PRA + b-PRA + PK-Def + Blood groups)
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Maine Coon DNA bundle (HCM1 + SMA + PK-Def + FXI + Blood Groups)
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Ragdoll DNA bundle (HCM1 + HCM3 + PKD + pd-PRA + Blood groups)
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Norwegian Forest DNA bundle (PK-Def + Amber + GSD4 + Blood groups)
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Siamese / Oriental DNA bundle (GM1 + MPS6 + PCG + rdAc-PRA + Blood Groups)
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Acrodermatitis enteropathica in Felis catus
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Factor XI deficiency ( F11 )
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MDR1 Gene Defect
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Skeletal Dysplasia
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Factor 12 FXII cat
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Devon Rex DNA bundle (CMS + Blood Groups + Long Coat + Rex Hair)
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Siberian DNA Bundle (Blood Groups + PK-Def + Dilution + Colourpoint)
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Genetic Blood groups in cats
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LABOGenetics XXL Cat - Comprehensive Feline DNA bundle
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Autoimmune Lymphoproliferative Syndrome (ALPS)
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Polydactyly (extra toes) / polydactylism / Polydactyl / hyperdactyly
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Unlisted DNA test
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Congenital Hypothyroidism (CH)
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Maine Coon 8 DNA tests bundle (HCM, SMA, PKDef, Poly, b, b1, cb, cs)
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Blue Eyes
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Glycogen Storage Disease ( GSD ) Type IV
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