LABOKLIN (UK)| Genetic Diseases | Cats| Sphynx DNA bundle (HCM4 + Hypokalemia + CMS + Blood groups)

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Maine Coon Special offer:
8 DNA tests for just £84.95 incl VAT
Maine Coon 8 DNA tests bundle (HCM, SMA, PKDef, Poly, b, b1, cb, cs)

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4 Bengal Specific DNA tests for just £72.00 incl VAT
Bengal DNA bundle (rdAc-PRA + b-PRA + PK-Def + Blood Groups)

British Special offer:
4 Breed Specific DNA tests for just £72.00 incl VAT
British Short / Long Hair DNA bundle (PKD + pd-PRA + ALS + Blood Groups)

Burmese Special offer:
4 Breed Specific DNA tests for just £72.00 incl VAT
Burmese DNA bundle (Hypokalemia (BHK) + Head Defect + Gangliosidosis (GM2) + Blood Groups

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5 Breed Specific DNA tests for just £72.00 incl VAT
Birma DNA bundle (PKD + pd-PRA + Hypotrichiose + MPS6 + Blood Groups)

Maine Coon Special offer:
5 Breed Specific DNA tests for just £72.00 incl VAT
Maine Coon DNA bundle (HCM1 + SMA + PK-Def + F11 + Blood Groups)

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5 Breed Specific DNA tests for just £72.00 incl VAT
Ragdoll DNA bundle (HCM1 + HCM3 + PKD + pd-PRA + Blood Groups)

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4 Breed Specific DNA tests for just £72.00 incl VAT
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Feline Special Offer:
8 cat DNA tests for just £84.95 including VAT
HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups

new test:      Paradoxical Pseudomyotonia (PP) in English Cocker and English Springer Spaniels
new test:      Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel
new test:      Lysosomal Storage Diseases (LSD) in Dalmatian and Doberman
new Kennel Club DNA testing schemes with LABOKLIN:
   • Osteochondrodysplasia (OCD) / Skeletal Dwarfism in Miniature Poodles
   • DINGS2: Deafness with Vestibular Dysfunction in Doberman
   • Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel


Sphynx DNA bundle (HCM4 + Hypokalemia + CMS + Blood groups) Test number: 8723 Price: £ 72.00 (including VAT) for all 4 tests

***1 )* *Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK)***

Breeds

Australian Mist , Burmese , Cornish Rex , Devon Rex , Singapura , Sphynx , Tonkinese .

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.

Trait of Inheritance

Inheritance : AUTOSOMAL RECESSIVE trait

Sire	Dam	Offspring

clear	clear	100% clear

clear	carrier	50% clear + 50% carriers

clear	affected	100% carriers

carrier	clear	50% clear + 50% carriers

carrier	carrier	25% clear + 25% affected + 50% carriers

carrier	affected	50% carriers + 50% affected

affected	clear	100% carriers

affected	carrier	50% carriers + 50% affected

affected	affected	100% affected

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

Sample Requirements

Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.

Turnaround

1-2 weeks

***2 )* *Congenital Myasthenic Syndrome (CMS) / Hereditary Myopathy***

Breeds

Devon Rex , Sphynx .

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.

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.

Trait of Inheritance

Autosomal Recessive

Inheritance : AUTOSOMAL RECESSIVE trait

Sire	Dam	Offspring

clear	clear	100% clear

clear	carrier	50% clear + 50% carriers

clear	affected	100% carriers

carrier	clear	50% clear + 50% carriers

carrier	carrier	25% clear + 25% affected + 50% carriers

carrier	affected	50% carriers + 50% affected

affected	clear	100% carriers

affected	carrier	50% carriers + 50% affected

affected	affected	100% affected

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

Sample Requirements

Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.

Turnaround

2-3 weeks

***3 )* *HCM4 ( Hypertrophic Cardiomyopathy HCM 4) in Sphynx***

Breeds

Canadian Sphynx , Sphynx .

The Disease

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.

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.

Inheritance : AUTOSOMAL Dominant with Incomplete Penetrance trait

Sire	Dam	Offspring

clear	clear	100% clear

clear	carrier	50% clear + 50% carriers

clear	affected	100% carriers

carrier	clear	50% clear + 50% carriers

carrier	carrier	25% clear + 25% affected + 50% carriers

carrier	affected	50% carriers + 50% affected

affected	clear	100% carriers

affected	carrier	50% carriers + 50% affected

affected	affected	100% affected

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.

Sample Requirements

Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.

Turnaround

2-3 weeks

***4 )* *Genetic Blood groups in cats***

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

Breed

All Cat Breeds .

The Disease

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.

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.

Trait of Inheritance

Inheritance : N > c > b trait

Sample Requirements

Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.

Turnaround

1-2 weeks

Price for the above 4 tests

£ 72.00 (including VAT)

To order:

Download Order Form from this link
Complete the order form and send it together with your samples to the following address:
Laboklin (UK), Unit 20, Wheel Forge Way, Trafford Park, Manchester, M17 1EH
Buccal swabs and EDTA tubes are available from us free of charge, to order, please use the online form <Request sample collection materials> or email: info@laboklin.co.uk.
If you are sending swab samples, please follow the instructions on this link .