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Siamese / Oriental DNA bundle (GM1 + MPS6 + PCG + rdAc-PRA + Blood Groups)
Test number: 8722
Price: £ 72.00 (including VAT) for all 5 tests
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1 ) Gangliosidosis GM1
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Breeds
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Balinese
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Javanese
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Korat
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Oriental Shorthair (OSH)
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Peterbald
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Seychellois
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Siamese
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Thai
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Tonkinese
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The Disease |
The gangliosidoses are inherited diseases of a category known as lysosomal storage diseases.
Affected kittens have head tremors at the beginning followed by impaired co-ordination of leg movements which eventually lead to paralysis.
GM1 gangliosidosis is due to an inherited deficiency of the enzyme beta -galactosidase.
Gangliosidoses is inherited as autosomal recessive traits. This means that cats which inherit only one copy of the disease gene appear normal, but the mutation can be passed on to their kittens with a 50 percent chance.
Matings between clears to carriers will result in kittens with a 50/50 chance of being clear, a 50/50 chance of being carriers. Kittens produced by clear to carrier matings should be tested. Breeding carriers to carriers gives each kitten a 25 percent chance of being clear, a 50 percent chance of being a carrier, and a 25 percent chance of being GM affected.
The DNA-based tests diffrentiate between affected, carriers and clear cats.
These tests can be done reliably at any age, and the results are exactly accurate. |
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Trait of Inheritance |
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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 Gangliosidosis GM1. The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / GM1 [ 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 Gangliosidosis GM1 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: GM1 / GM1 [ 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 Gangliosidosis GM1 and will pass the mutant gene to its entire offspring
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2 ) Mucopolysaccharidosis Type VI (MPS VI MPS6)
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Breeds
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Balinese
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Birman (Sacred cat of Burma)
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Domestic Shorthair
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Javanese
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Oriental Shorthair (OSH)
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Peterbald
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Ragdoll
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Seychellois
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Siamese
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Thai
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Tonkinese
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The Disease |
Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease that is triggered by two independent mutations in the gene for enzyme N-acetylgalactosamine 4-sulfatase (4S). Both mutations are autosomal and recessive. The two mutations occur separately leading to the presence of six possible genotypes. The two mutations have different effects on the severity of the disease. A mild form (m) and a severe form (s), the mild form may only be detected by certain laboratory tests. With the severe form symptoms starts at 6-8 weeks of age and includes wide face, shortened nose, small ears, reduced flexibility and retarded growth compared to unaffected littermates. By 8 months of age, affected cats suffer of severe hind-limb mobility problems or paralysis, neurological symptoms and dwarfism. Clinically, urine samples show increased levels of dermatan sulfate (DS) and an increase in white blood cell granules. Organs and tissues can also be compromised by accumulation of intercellular DS.
Symptoms may include:
- Abnormal facial structure
- Widespread cloudiness of the cornea (Diffuse corneal clouding)
- Sunken chest (pectus excavatum)
- Granulation of white blood cells in the peripheral blood
- Abnormal development of the growth plates (epiphyseal dysplasia)
- Irregular bone formation (ossification)
- Short stature (dwarfism)
- Joint degeneration
- Arthritis of the spine (spondylosis)
- Dislocation of the hip and thigh (coxofemoral subluxation)
- Partial dislocation of the kneecap (patellar subluxation)
It seems that cats with one copy of the severe and one copy of the mild form are unlikley to show symptoms.
The severe mutation: s
The mild mutation: m
Possible genotypes:
N/N Normal, cat does not have either the server or the mild mutations
N/s Carrier, cat has one copy of severe mutation but is healthy
N/m Carrier, cat has one copy of MPSVIm mutation but is healthy
s/s Affected, cat has 2 copies of the severe S mutation
m/m Affected, cat has 2 copies of the mutation
m/s Cat has one copy each of the severe and one copy of the mild mutation but may be otherwise healthy |
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Trait of Inheritance |
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Autosomal recessive
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Inheritance :
trait
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3 ) Primary Congenital Glaucoma (PCG)
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The Disease |
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A genetic cause for glaucoma in Siam cats
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4 ) Progressive Retinal Atrophy ( rdAc - PRA )
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Breeds
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Abyssinian
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American Curl Longhair
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American Curl Shorthair
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American Wirehair
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Balinese
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Bengal (Leopard cat)
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Colorpoint Shorthair
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Cornish Rex
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Javanese
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Munchkin
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Ocicat
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Oriental Shorthair (OSH)
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Peterbald
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Seychellois
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Siamese
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Singapura
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Somali
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Thai
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Tonkinese
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The Disease |
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The late onset photoreceptor degeneration rdAC-PRA is affecting Abyssinian and Somali cats. This genetic disorder causes the degeneration of retinal cells in the eye: In the early stage of the disease rod cells are affected, later degeneration of the cone cells results in complete blindness of the cat.
Affected cats have normal vision at birth. The age of onset of clinical symptoms is typically at the age of 1.5-2 years. At the end stage of disease complete photoreceptor degeneration and blindness is observed, usually at the age of 3-5 years.
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Description |
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By DNA testing, the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish not only between affected and clear cats, 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.
To ensure maximum test reliability, the test is always performed in two independent test runs per sample.
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Trait of Inheritance |
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The mutation in the CEP290 gene which has been suggested to cause rdAc-PRA has recently been published by the group of Kristina Narfström at the University of Missouri-Columbia, Columbia. rdAc-PRA is inherited as an autosomal recessive trait. So there are three conditions a cat can be: it can be clear (genotype N/N or homozygous normal) meaning that it does not carry the mutation and will not develop the rdAc-form of PRA. Since it also cannot pass the mutation onto its offspring, it can be mated to any other cat.
A cat which has one copy of the CEP290 gene with the mutation and one copy without the mutation is called a carrier or heterozygous (genotype N/PRA); while it will not be affected by rdAc-PRA, it can pass the mutation onto its offspring and should therefore only be mated to clear cat.
Cats that develop this form of PRA have two CEP290 gene copies with the mutation (genotype PRA/PRA or homozygous affected); they will always pass the mutated gene onto their offspring and should also be mated only to clear cat.
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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 Progressive Retinal Atrophy ( rdAc - PRA ). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / rdAc-PRA [ 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 Progressive Retinal Atrophy ( rdAc - PRA ) 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: rdAc-PRA / rdAc-PRA [ 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 Progressive Retinal Atrophy ( rdAc - PRA ) and will pass the mutant gene to its entire offspring
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Turnaround |
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1-2 weeks
We will run this test 2 independant times on your sample to ensure that the result is 100% accurate
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5 ) 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 |
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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 5 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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Osteochondrodysplasia (Scottish Fold Osteodystrophy) OCD
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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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Progressive Retinal Atrophy ( rdAc - PRA )
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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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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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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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Sphynx DNA bundle (HCM4 + Hypokalemia + CMS + 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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HCM4 ( Hypertrophic Cardiomyopathy HCM 4) in Sphynx
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Polycystic Kidney Disease 2 (PKD2)
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Glycogen Storage Disease ( GSD ) Type IV
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