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LABOKLIN (UK)| Genetic Diseases | Dogs| Miniature Schnauzer Bundle (CMT, MAC, Myotonia congenita, PMDS, TypB1-PRA, Comma-defect)
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new test:      Paradoxical Pseudomyotonia (PP) in English Cocker and English Springer Spaniels  
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new Kennel Club DNA testing schemes with LABOKLIN:
   Osteochondrodysplasia (OCD) / Skeletal Dwarfism in Miniature Poodles
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   Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel


Miniature Schnauzer Bundle (CMT, MAC, Myotonia congenita, PMDS, TypB1-PRA, Comma-defect)

Test number: 8619

Price: £ 144.00 (including VAT) for all 6 tests

  1 ) Charcot -Marie - Tooth (CMT ) / Demyelinating Polyneuropathy (DM / DPN / DMPN)

Breed
Miniature Schnauzer .
The Disease
Charcot-Marie-Tooth type 4B2 is an inherited demyelinating peripheral nerve disease affecting the miniature schnauzer breed. Affected dogs show regurgitations caused by mega-esophagus and inspiratory dyspnea caused by laryngeal paralysis at a young age (< 2 years). Affected dogs have been alive more than 3 years following diagnosis which indicates a long survival rate. Typical pathological findings are variable thickness of the myelin sheath (so-called “tomacula”) around the axons of peripheral nerves and areas of segmental demyelination.
Trait of Inheritance
autosomal recessive trait

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 dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Charcot -Marie - Tooth (CMT ) / Demyelinating Polyneuropathy (DM / DPN / DMPN). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CMT [ 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 Charcot -Marie - Tooth (CMT ) / Demyelinating Polyneuropathy (DM / DPN / DMPN) 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: CMT / CMT [ 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 Charcot -Marie - Tooth (CMT ) / Demyelinating Polyneuropathy (DM / DPN / DMPN) and will pass the mutant gene to its entire offspring
 
Further reading
Long-term outcome of Miniature Schnauzers with CMThtml file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks

  2 ) Mycobacterium Avium Complex ( MAC ) sensitivity

Breed
Miniature Schnauzer .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Miniature Schnauzer.

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.

The Disease
Immunodeficiencies represent a large heterogenous group of dysfunctions of the host’s immune system which increase the risk for infections. While dogs are generally resistant to Mycobacterium avium infections, a variant has been found to be associated with a genetic predisposition to infection with systemic avian tuberculosis in Miniature Schnauzers (referred to mycobacterium avium complex or MAC). The described variant in the CARD9 gene most likely impairs a signaling pathway which is important for the dog’s immunodeficiency. Common symptoms of affected dogs are: lethargy, inappetence, weakness, nasal discharge, conjunctivitis, diarrhea, lymphadenopathy, hepatomegaly and splenomegaly. The age of onset varies between one and eight years. Because of the underlying immunodeficiency, the infections are poorly responsive to treatment and often recur. Since MAC is a zoonotic disease, humans with a suppressed immune system could be also at risk for an infection.
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-3 weeks

  3 ) Myotonia Congenita

Breeds
Australian Cattle Dog , Border Collie , Labrador Retriever , Miniature Schnauzer .
The Disease
Myotonia congenita is a hereditary pathogenic condition affecting skeletal muscle ion channels and is characterized by a delay of relaxation ot the skeletal muscles following an electical or mechanical stimulus or after cessation of voluntary activity. Myotonia congenita results from genetic defects in the skeletal muscle chloride ion channel and the ensuing reduced chloride ion conductance across the sarcolemma. Myotonic Miniature Schnauzers have hypertrophic skeletal muscles, difficulty in rising after a period of rest, a stiff and stilted gait when walking, and a bunnyhop type movement when running. In addition, there are increased respiratory sounds, difficulty when swalling, ptyalism, dental abnormalities and superior prognathism.
Trait of Inheritance
Myotonia congenita in Miniature Schnauzers is an inherited autosomal recessive trait. This means that a dog can be clear (homozygous normal), affected, or a carrier (heterozygous). The carriers can spread the diseased gene in the population. Therefore, reliable information on non-affected dogs is the key to controlling this disease.

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 dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Myotonia Congenita. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / MC [ 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 Myotonia Congenita 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: MC / MC [ 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 Myotonia Congenita and will pass the mutant gene to its entire offspring
Description

This is a mutation-based gene test, which offers many advantages over other methods

Progress in molecular genetics has allowed the identification of the gene mutation responsible for Myotonia congenita in Miniature Schnauzers. 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 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 non-affected animal, and non-carrier puppies can be saved for the next round of breeding.

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1 - 2 weeks

  4 ) Persistent Müllerian duct syndrome (PMDS)

Breed
Miniature Schnauzer .
The Disease
Muellerian ducts (paramesonephric ducts) are small structures that exist in both male and female embryos during the early fetal development, at 35-36 days of gestation, the embryo begins to differentiate into male or female. In the female, Muellerian ducts will develop to form the uterine tubes, uterus, cervix, and the upper one-third of the vagina. In the male, Muellerian ducts are lost because the testes starts producing a hormone that causes regression of the Mullerian ducts.

In Miniature Schnauzer males which are affected by Persistent Müllerian duct syndrome (PMDS), the Müllerian ducts fail to regress during sexual differentiation, and therefore, all Müllerian duct derivatives, bilateral oviducts, a complete uterus with cervix and the cranial portion of the vagina, are also present.

Approximately 50% of affected dogs have normally descended testes and are fertile . However, the remaining 50% have unilateral or bilateral cryptorchidism, and as a result can be infertile and develop testicular tumors.

Treatment involves surgical procedures and significant expenses for dog owners. Prevention is limited to the elimination of affected dogs and carriers from the breeding population. In the miniature schnauzer, PMDS is inherited as an autosomal recessive trait with expression limited to homozygous males. Both males and females can be carriers. However, affected dogs cannot be identified by physical examination alone, particularly if they are not cryptorchid. Similarly, carriers cannot be detected, as they are reproductively normal males or females. A DNA test is now available to identify dogs as clear, carrier or affected.

Females with one or tow copies of the mutation will have normal internal and external female anatomy.

Males with one copy of the mutation will not develop the disease.

About 50% of Males with two copies of the mutation are likley to express the disease.

Avoid breeding carrier to carrier.

Trait of Inheritance
Sex-Limited 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 dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Persistent Müllerian duct syndrome (PMDS). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / PMDS [ 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 Persistent Müllerian duct syndrome (PMDS) 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: PMDS / PMDS [ Homozygous mutant ]

 

The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

About 50% of affected males with two copies of the mutation (PMDS/PMDS) are likley to express the disease.

Sample Requirements
Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube
Turnaround
2 - 3 weeks

  5 ) Progressive Retinal Atrophy Type B1 PRA (HIVEP3)

this test replaces the old TYPE B PRA ( PPT1 )
Breed
Miniature Schnauzer .
The Disease
Type B1 Progressive Retinal Atrophy in Miniature Schnauzer is another PRA mutation which causes an early onset form of the disease with symptoms occurring within the first five years of age. This form of PRA is caused by a genetic variant in the HIVEP3 gene.
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 dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Progressive Retinal Atrophy Type B1 PRA (HIVEP3). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / Type B1 PRA (HIVEP3) [ 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 Progressive Retinal Atrophy Type B1 PRA (HIVEP3) 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: Type B1 PRA (HIVEP3) / Type B1 PRA (HIVEP3) [ 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 Progressive Retinal Atrophy Type B1 PRA (HIVEP3) and will pass the mutant gene to its entire offspring
Description

For some time Optigen, now GeneSeek, has been offering a marker test for Type B PRA in the Miniature Schnauzer. This test examines a genetic variant in the PPT1 gene, which has shown a correlation to symptoms of PRA in a scientific study (Murgiano et al). More recent scientific studies (Kaukonen et al) have now provided further insights:

  • This study distinguishes two forms of PRA in miniature schnauzers: according to this study, there is an early form whose symptoms occur in dogs up to the age of 5 years and have a severe course. In addition, there is probably a late form whose symptoms occur in dogs over 7 years and have a mild course. Furthermore, this late form appears to be inherited X-linked.
  • For the early form, a genetic variant in the HIVEP3 gene was found that correlates to 100% in the study cohort and is presumably the causative variant.

The study also tested the PPT1 variant in the cohort. There were differences between the results for PPT1 and HIVEP3. All dogs with signs of the early PRA form showed the PRA/PRA genotype in both tests. However, there were also dogs that had the homozygous affected genotype for PPT1 but not for HIVEP3 and were symptom-free. This confirms that the newly discovered variant in HIVEP3 has a better correlation. Therefore, it is recommended to perform the new test according to Kaukonen et al.

 
Further reading
Type B1 PRA (HIVEP3)HTML file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-3 weeks

  6 ) Spondylocostal Dysostosis (Comma Defect)

Breed
Miniature Schnauzer .
The Disease
affecting the Miniature Schnauzer breed. The condition is characterised by truncal shortening, extensive hemivertebrae (wedge-shaped vertebrae) and rib anomalies including malalignment, fusion and reduction in number. Affected dogs are stillborn or die shortly after birth. The genetic test is available from Laboklin and can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.
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 dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Spondylocostal Dysostosis (Comma Defect). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / SCD [ 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 Spondylocostal Dysostosis (Comma Defect) 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: SCD / SCD [ 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 Spondylocostal Dysostosis (Comma Defect) 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
Price for the above 6 tests
£ 144.00 (including VAT)

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