cavalier - CombiBreed France

Muscular Dystrophy (MD) – Cavalier King Charles Spaniel

Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans. The disorder is severe and ultimately fatal, and causes progressive degradation of the dog’s muscles. It is caused by an X-linked recessive mutation to the DMD gene.

The variant analysed in this test is found in the Cavalier King Charles Spaniel, and is sometimes known as Cavalier King Charles Spaniel Muscular Dystrophy (CKCS-MD).

Macrothrombocytopenia (MTC) – Cavalier King Charles Spaniel

Thrombocytopenia or macrothrombocytopenia (MTC) is a hereditary disorder characterized by a reduced number of blood platelets (thrombocytes), many of which are enlarged. Thrombocytes play an essential role in blood clotting (coagulation). Mutations in the ß1‑tubulin (TUBB1) gene have been identified as the cause of this reduction. Depending on the specific variant, symptoms may range from prolonged bleeding times to an apparently healthy animal.
The variant in this test occurs in the Cavalier King Charles Spaniel and is caused by a recessive mutation in TUBB1. This form is generally considered mild: affected dogs often show low platelet counts and enlarged platelets, but many remain clinically healthy without spontaneous bleeding problems.
A related mutation has been identified in the Norfolk Terrier and Cairn Terrier. This version is regarded as more severe, with affected dogs more likely to show clinical signs such as prolonged bleeding times, petechiae, or bruising.

MCAD Deficiency – Cavalier King Charles Spaniel

Medium-chain acyl-CoA dehydrogenase (MCAD) is an enzyme that helps the body process medium-chain fatty acids, forming a key part of an animal’s metabolism. A recessive mutation to the gene ACADM causes an MCAD deficiency (MCADD). This results in a build-up of medium-chain fatty acids, causing neurological symptoms such as fatigue and seizures. In dogs, MCAD Deficiency is found in the Cavalier King Charles Spaniel.

CombiBreed Cavalier King Charles Spaniel

This Combination Pack is designed to provide you with vital insights into your dog’s genetic health, traits and diversity and includes DNA tests for numerous important diseases and/or traits. In addition, we also calculate the Coefficient of Inbreeding (COI) and the percentage of Heterozygosity of your dog’s DNA. The COI shows the degree of inbreeding of your dog, whereas the Heterozygosity percentage is a measure of your dog’s individual genetic diversity.

Information about individual tests in this package is available in the section ‘Included Tests’ on this page. We accept samples from animals of any age. Normally, the turnaround time of tests performed at our own facilities is 10 working days after receipt of the sample. For outsourced tests, so-called “External lab”, or “External Patent lab”, the turnaround time is at least 20 working days after receipt of your sample. Please note that the mentioned 20 working days is an estimate, as the shipping time to these external laboratories or patent facilities may vary due to unexpected delays.

Some tests included are performed by an external laboratory. CombiBreed takes care of the mediation between you as a customer and the external laboratory. In these cases, CombiBreed cannot be held liable for the behaviour of the client and/or contractor.

Primary Immunodeficiency Type 2 (PIPS2, CARMIL2-related) – CKCS

Primary Immunodeficiency Type 2, also known as PIPS2, is an immunodeficiency disorder in dogs often associated with the fungus Pneumocystis pneumonia (PCP). For this reason, it is also referred to as Primary Immunodeficiency with Pneumocystis Susceptibility.

The disorder is caused by an autosomal recessive mutation in the CARMIL2 gene. Affected dogs are unable to produce a protein critical for proper immune function, making them highly susceptible to respiratory infections. This variant of the disorder is specifically found in Cavalier King Charles Spaniels.

Dry Eye Curly Coat Syndrome (CCS, DE-CC)

Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis (CKCSID), colloquially known as ‘Dry Eye Curly Coat Syndrome’, is a disorder found in the Cavalier King Charles Spaniel. There are two elements to CKCSID: a severe form of dry eye (Keratoconjunctivitis Sicca, KCS), and a skin disorder. The disease is caused by a recessive mutation to the gene FAM83H.

Episodic Falling Disease – EFS (External Patent Lab)

Episodic Falling Syndrome (EFS), also called Episodic Hypertonicity, Hyperekplexia or Paroxysmal Exercise-Induced Dystonia, is a neurological disorder found in the Cavalier King Charles Spaniel. The disease causes episodes of muscle stiffness that can temporarily immobilize affected dogs. It is caused by a recessive mutation to the gene BCAN.

Xanthinuria, type 2 – Spaniel variant

Xanthinuria is a metabolic disorder that causes an excess of xanthine in the urine, which leads to the formation of urinary stones and related complications. Type II xanthinuria is caused by a recessive mutation to the gene MOCOS. The variant of the disorder analysed in this test is found in the Cavalier King Charles Spaniel and English Cocker Spaniel. Related variants are also found in the Dachshund and Manchester Terrier.

Episodic Falling Disease – EFS (External Lab)

Episodic Falling Syndrome (EFS), also called Episodic Hypertonicity, Hyperekplexia or Paroxysmal Exercise-Induced Dystonia, is a neurological disorder found in the Cavalier King Charles Spaniel. The disease causes episodes of muscle stiffness that can temporarily immobilize affected dogs. It is caused by a recessive mutation to the gene BCAN.

Myxomatous Valvular Degeneration (MMVD, 3 variants)

Myxomatous Valvular Degeneration (MMVD; also known as Mitral Valve Disease) is a common heart condition in older, small breed dogs (under 20kg). The exact cause is not fully understood, though an inherited or genetic component is suspected. Mutations in the NEBL gene (Nebulin-like proteins; nebulette gene) are potentially contributing and associated with the condition. This gene is involved in the structure and function of cardiac muscle cells and is therefore involved in muscle fiber stability.
In MMVD, the mitral valve weakens, causing improper closure and blood to flow backward into the atrium (regurgitation). This leads to heart failure over time. The disease occurs more often in males and breeds like Cavalier King Charles Spaniels and Dachshunds. Three mutations are tested in this package. Dogs carrying one or more risk alleles at these NEBL loci have been shown to be significantly more likely to develop MMVD and to develop it earlier in life (up to three years earlier in homozygous individuals).

Xanthinuria, type 2 – Manchester Terrier

Xanthinuria is a metabolic disorder that causes an excess of xanthine in the urine, which leads to the formation of urinary stones and related complications. Type II xanthinuria is caused by a recessive mutation to the gene MOCOS. The variant of the disorder analysed in this test is found in the Manchester Terrier. Related variants have also been observed in the Cavalier King Charles Spaniel and in the Dachshund.

Xanthinuria type 2 – Dachshund

Xanthinuria is a metabolic disorder that causes an excess of xanthine in the urine, which leads to the formation of urinary stones and related complications. Type II Xanthinuria is caused by a recessive mutation to the gene MOCOS. The variant analysed in this test is found in the Dachshund. Closely related variants occur in the Cavalier King Charles Spaniel and Manchester Terrier.

Macrothrombocytopenia (MTC) – Cairn and Norfolk Terrier

Thrombocytopenia or macrothrombocytopenia (MTC) is a hereditary disorder that is characterized by a reduced number of blood platelets (thrombocytes). Many of the remaining thrombocytes are enlarged. Thrombocytes play an important role in the clotting of blood (a.k.a. coagulation). There are two mutations identified in the ß1-tubulin (TUBB1) gene to cause a reduction in thrombocytes. Depending on the variant, symptoms may range from prolonged bleeding times to an apparently healthy animal.

The variant in this test of the disorder is found in the Norfolk Terrier and Cairn Terrier, and is caused by a recessive mutation to the gene TUBB1. A related version occurs in the Cavalier King Charles Spaniel.

Copper Toxicosis (Accumulating Variant, ATP7B-related)

This test is for a mutation on the ATP7B gene. The ATP7B gene is associated with an increased risk of developing copper toxicosis in several dog breeds. Copper toxicosis is sometimes also called Wilson Disease. In Labrador Retrievers the ATP7B gene interacts with two other genes, ATP7A and RETN. A mutation in ATP7A has been found to be protective, and in one study, carrying one or two copies of a mutation in RETN was associated with lower copper values in the liver in Labradors. Follow-up studies have not replicated these findings, so the RETN variant may be neutral rather than protective. In Labradors and related breeds we recommend testing the three variants together.

Degenerative Myelopathy Exon 2 (DM Exon 2) (External Patent Lab)

Canine Degenerative Myelopathy (DM) is an incurable progressive neurodegenerative disease of the spinal cord. Neurodegenerative diseases are characterised by progressive loss of neurons in the central nervous system (CNS) which leads to deficiencies in function. In the case of DM, the affected region is the spinal cord, which results in ataxia (a loss of coordination). DM is similar in many ways to Amyotrophic Lateral Sclerosis (ALS) in humans.

This variant of the disease, sometimes designated as SOD1A or as Degenerative Myelopathy Exon 2, occurs in many different breeds. It is probely caused by an autosomal recessive mutation with incomplete penetrance to the gene SOD1. The variant is found in many breeds, but the disease is rarely diagnosed in breeds or in mixed-breed dogs other than those mentioned for this test.

For DM in Pembroke Welsh Corgis there are also multiple Degenerative Myelopathy Risk Modifiers (DMRM) descibed in literature. These SP110 mutations are available for testing in a different package.

Degenerative Myelopathy Exon 2 (DM Exon 2)

Canine Degenerative Myelopathy (DM) is an incurable progressive neurodegenerative disease of the spinal cord. Neurodegenerative diseases are characterised by progressive loss of neurons in the central nervous system (CNS) which leads to deficiencies in function. In the case of DM, the affected region is the spinal cord, which results in ataxia (a loss of coordination). DM is similar in many ways to Amyotrophic Lateral Sclerosis (ALS) in humans.

This variant of the disease, sometimes designated as SOD1A or as Degenerative Myelopathy Exon 2, occurs in many different breeds. It is caused by an autosomal recessive with incomplete penetrance mutation to the gene SOD1. Although the mutation is found in many breeds, the disease is rarely diagnosed in breeds or in mixed-breed dogs other than those mentioned for this test. A related variant specific to the Bernese Mountain Dog has also been observed. When testing a Bernese Mountain Dog for DM, it is important to test for both of these variants, as opposed to only one.

For DM in Pembroke Welsh Corgis there are also multiple Degenerative Myelopathy Risk Modifiers (DMRM) descibed in literature. These SP110 mutations are available for testing in a different package.

Search: cavalier

Need a new search?