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Siamese / Oriental DNA bundle (GM1 + MPS6 + PCG + rdAc-PRA)
Test number: 8722
Price: £ 66.00 (including VAT) for all 4 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
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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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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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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
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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 |
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. 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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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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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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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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4 ) rdAc-PRA (Progressive Retinal Atrophy )
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Breeds
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Abyssinian
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American Curl/Wirehair
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Balinese
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Bengal
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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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Oriental Shorthair
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Ocicat
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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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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 rdAc-PRA (Progressive Retinal Atrophy ). 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 rdAc-PRA (Progressive Retinal Atrophy ) 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 rdAc-PRA (Progressive Retinal Atrophy ) and will pass the mutant gene to its entire offspring
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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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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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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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Price
for the above 4 tests
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£ 66.00 (including VAT)
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| To order:
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Download
Order Form from this link 
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Complete the order form and send it together
with your samples to the following address:
Laboklin (UK), 125 Northenden Road, Manchester, M33 3HF
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