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Pelsfarge, Oculocutaneous Albinism (OCA4-1)

Oculocutaneous Albinism is a disorder caused by a lack of pigment in the skin, hair and eyes, resulting in a white coat colour and pale eyes, and which can also cause sensitivity to light. This particular variant of the disease, Oculocutaneous Albinism, is caused by a recessive mutation to the gene SLC45A2. It is found in the Lhasa Apso, Pekingese and German Spitz (Pomeranian) breeds, as well as in certain mixed-breed dogs. Similar variants of Type IV albinism are found in the Doberman and the Bullmastiff.

Neuronal Ceroid Lipofuscinosis 8 (NCL8) – Australian Shepherd Type

Neuronal Ceroid Lipofuscinosis (NCL) is a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, Neuronal Ceroid Lipofuscinosis type 8 (NCL8), occurs in the Australian Shepherd and German Shorthaired Pointer. It is caused by a recessive mutation to the Ceroid‑Lipofuscinosis, Neuronal 8 (CLN8) gene. Other breeds that carry mutations for NCL8 include the English Setter, Alpenländische Dachsbracke, and Saluki.

Progressiv retinal atrofi (PAP-PRA1)

Progressive Retinal Atrophy (PRA) is a gradual progressive degeneration of the photoreceptor cells in the retina, causing gradual vision loss, eventually leading to blindness. It is a non-painful condition that tends to progress slowly over time. There are multiple mutations found to cause PRA. This variant of PRA explains approximately 70% of PRA cases in the Papillon and Phalène and is caused by a recessive mutation to the CNGB1 gene.

HNPK (eksternt laboratorium)

Hereditary Nasal Parakeratosis (HNPK) is a hereditary skin disorder affecting the Labrador Retriever and related breeds. It is caused by a genetic defect that disrupts normal keratinization of the nasal skin, leading to an abnormal accumulation of keratin on the nose. The disorder is caused by a mutation in the SUV39H2 gene and is inherited in an autosomal recessive manner.

CNS Atrophy with Cerebellar Ataxia (CACA) – Belgian Shepherd

Central nervous system (CNS) atrophy with cerebellar ataxia (CACA) is a neurological condition observed in Belgian Shepherds (or Belgian Malinois). It is caused by a mutation in the SELENOP gene, which lead to a defect in selenium transport.

Affected puppies display uncoordinated movements and intention tremors at two weeks of age and might need to be euthanized on humane grounds.

The disease is is caused by an autosomal recessive deletion in the SEPP1 gene (a.k.a. SELENOP), which is associated with a defect in selenium transport to the CNS.

DNA Profile Dog – ISAG 2006 (STR) + ISAG 2020 (SNP)

This product contains a DNA profile for a single animal.

A DNA profile is established using DNA markers. The profile from each sample is stored in a database and can be represented as a barcode, which is unique to each individual. This DNA profile serves the purpose of parentage verification, involving a comparison of the genetic information present in an offspring with that of the potential parents. For accurate parentage verification, all genetic information in the offspring must be traceable to the combination of the dam and the sire. In the majority of cases, the reliability of this analysis exceeds 99.5 percent.

In addition to parentage verification, a DNA profile can be employed to confirm the identity of an individual. The reliability of such an analysis is extremely high, as it necessitates an exact match of all genetic information between two samples.

Two types of markers are available for DNA profiling and parentage verification: STR (microsatellite) markers and SNP markers. These markers rely on different technologies, and their results are not interchangeable. If you’re unsure about the difference between these marker sets, please reach out to us before ordering a test to determine which marker type is necessary for performing the DNA profile or parentage verification.

Pigeon Performance Gene DRD4-1 Bst4CI

Dopamine is a so-called neurotransmitter. Many important physiological functions are mediated by dopamine and its receptors. The dopamine receptor type 4 (DRD4) gene has been scientifically proven to influence the racing performance of pigeons, making it a useful performance marker.

There are two point mutations in this gene: DRD4-Bst4CI (also known as DRD4-1 or DRD4a) and DRD4-MnlI (also known as DRD4-2 or DRD4b).
In this the DRD4-Bst4CI mutation is analysed, which has been linked to enhanced orientation and initiative. This mutation has a strong positive effect on races up to 600 km, particularly in heterozygous individuals. The other mutation is available as a separate test.

Pigeon Performance Gene DRD4-2 MnLI

Dopamine is a so-called neurotransmitter. Many important physiological functions are mediated by dopamine and its receptors. The dopamine receptor type 4 (DRD4) gene has been scientifically proven to influence the racing performance of pigeons, making it a useful performance marker.

There are two point mutations in the gene: DRD4-Bst4CI (also known as DRD4-1 or DRD4a) and DRD4-MnlI (also known as DRD4-2 or DRD4b).
In this test the presence of the DRD4-MnlI mutation is analysed. This mutation appears to influence character and perseverance, leading to improved performance in long-distance races in heterozygous individuals. The other mutation is available as a separate test.

Cerebellar Ataxia (CA1, RALGAPA1-related) – Belgian Shepherd

Cerebellar Ataxia (CA1) is a neurodevelopmental disorder. It is caused by an autosomal recessive mutation in the Ral GTPase activating protein, alpha subunit 1(RALGAPA1) gene. This gene is involved in the regulation of the activity of two small proteins, RALA and RALB. This regulation is crucial for controlling cellular processes such as growth, migration, and especially neuronal development. RALGAPA1 is highly expressed in areas of the brain that are essential for motor coordination. The mutation causes disruption of normal neuronal signalling and resulting in cerebellar ataxia in specific Belgian shepherd dogs.

Muscular Dystrophy (MD) – American Staffordshire Terrier

Muscular Dystrophy (MD) is a muscle disorder in the American Staffordshire Terrier. It is also known as Ullrich-Type congenital muscular dystrophy and primarily causes diffuse muscle atrophy and multifocal joint contractures with limited flexibility. The disorder is caused by an autosomal recessive mutation in the Collagen Type VI Alpha 3 Chain (COL6A3) gene.

Other Ullrich-Type variants of muscular dystrophy are available for the Labrador Retriever.

Polynevropati (LPN1)

A hereditary vorm of polyneuropathy (PN) is a disorder seen in Leonbergers and Saint Bernards. It affects the peripheral nerves and is similar to Charcot-Marie-Tooth (CMT) disease in humans. This severe, progressive condition usually starts in young dogs and leads to reduced exercise tolerance, gait problems, muscle loss in the hind limbs, and sometimes noisy or labored breathing due to malfunction of the nervous system. This form of PN is caused by a recessive mutation in the ARHGEF10 gene.

Disproportionate Dwarfism – Dalmatian

Disproportionate Dwarfism is a skeletal disorder affecting limb development in Dalmatian dogs. The condition results in shortened limbs relative to the body, while the torso and head remain normally proportioned. It is caused by a mutation in the PRKG2 gene and follows an autosomal recessive inheritance pattern. The disorder has been observed in the Dalmatian breed.

Congenital Cornification Disorder (ILVEN) – Chihuahua

Congenital cornification disorder affects how the outer layer of the skin forms and sheds. There are two distinct mutations in Chihuahuas associated with congenital cornification disorder resembling Inflammatory Linear Verrucous Epidermal Nevus (ILVEN). These X-linked incomplete dominant mutations both affect the NAD(P) dependent steroid dehydrogenase-like (NSDHL) gene which encodes an enzyme that plays a critical role in cholesterol biosynthesis, which is essential for normal cell membrane structure, signalling, and skin barrier function.
Dogs affected by this disorder typically present with linear skin lesions. The lesions appear as thickened, verrucous (wart-like), and scaly plaques, often distributed in a unilateral or segmental fashion. These skin changes are persistent, non-healing, and may be painful or itchy. Importantly, ILVEN in dogs is similar to the human CHILD syndrome, though it is limited to the skin, with no systemic involvement. ILVEN is homozygous lethal mutation, therefore only female dogs will be affected. Any male embryos carrying the mutation will spontaneously abort.

Muskeldystrofi (MD) – Border Collie

Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans. The disorder leads to a gradual breakdown of the dog’s muscles and is ultimately fatal. The disease is caused by an X-linked recessive mutation in the DMD gene. As an X-linked recessive disease, it primarily affects male dogs, while females may mostly be carriers.

This specific variant of the disorder is found in the Border Collie.

Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) – English Springer Spaniel

Dyserythropoietic Anaemia and Myopathy Syndrome (DAMS) is a severe blood and muscle disorder in dogs. The disorder causes muscle atrophy, anaemia, heart defects, and may result in the death of affected puppies. It is caused by a recessive mutation to the gene EHBP1L1, and is found in the English Springer Spaniel. A closely related variant of the disorder occurs in the Labrador Retriever.

X-Linked Ectodermal Dysplasia (XHED) – Shepherd Type

X-Linked Ectodermal Dysplasia (XHED), also known as anhidrotic ectodermal dysplasia, is a skin and tissue disorder that results in lack of hair and underdeveloped teeth. The disorder can can leave affected dogs vulnerable to parasites and infections. It is caused by an X-linked recessive mutation to the gene EDA.

The variant of the disease analysed in this test is found in the German Shepherd. Other variants have been observed in the Dachshund and certain mixed breeds.

Startle Disease – Miniature American Shepherd

Startle Disease, also known as hyperekplexia, is a neurological disorder. Its main symptom is an exaggerated startle response that can result in episodes of sudden stiffness and collapse. The specific variant of the disorder analysed in this test is found in the Miniature American Shepherd. It is caused by a recessive mutation to the gene GLRA1.

Alaskan Husky Encephalopathy (AHE)

Alaskan Husky Encephalopathy (AHE) is a severe neurodegenerative disease unique to Alaskan Huskies. AHE causes neurological deficits such as seizures and loss of coordination, and is ultimately fatal. The disorder is caused by a recessive mutation to the gene SLC19A3. A related variant of the disorder also occurs in the Yorkshire Terrier, where it is known as Juvenile-Onset Necrotizing Encephalopathy.

Paroxysmal Exercise-Induced Dyskinesia (PED) – Weimaraner

Paroxysmal Exercise-Induced Dyskinesia (PED), also known as Paroxysmal Dystonia-Ataxia Syndrome and Paroxysmal Movement Disorder (PMD), is a disorder found in the Weimaraner, which can cause an abnormal gait, muscle contractions and possible collapse. It is caused by a recessive mutation to the gene TNR.

Dvergvekst ACAN D1, D2, D3 (forbedret), D4

Chondrodysplastic Dwarfism is a skeletal disorder that causes reduced growth and an abnormal body shape. This variant of dwarfism, found in the Miniature Horse and Falabella, can be caused by any combination of four different recessive mutations to the gene ACAN, which are known as D1, D2, D3* and D4. The D1 and D3* mutations are also known to occur in the Shetland Pony. If foals with ACAN-caused dwarfism are born alive, the disorder is severe and painful, and in severe cases it may require euthanasia of an affected foal.

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