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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.

Congenital Myasthenic Syndrome (CMS) – Heideterrier

Congenital Myasthenic Syndrome (CMS) is a hereditary neuromuscular disorder characterised by severe generalized skeletal muscle weakness and fatigue, usually it manifests itself with exertion. This variant of the disorder is caused by a recessive mutation to the gene CHRNE, and is found in the Heideterrier. A closely related variant occurs in the Jack Russell Terrier.

Hypertrophic Cardiomyopathy 3 (HCM3)

Hypertrophic Cardiomyopathy (HCM) is a serious disorder characterized by an enlarged heart, which can lead to weakness, fatigue and (potentially fatal) heart failure. This specific variant of the disease, found in the Ragdoll, is caused by a mutation to the gene MYBPC3. It seems to inherit in an autosomal dominant way with incomplte penetrance. A related variant has also been observed in the Maine Coon, Munchkin and Scottish Fold.

Coat Colour Oculocutaneous Albinism (OCA1)

Oculocutaneous Albinism (OCA) is a group of disorders in which an affected animal produces little to no pigment, leading to silver/white fur, pale eyes and sometimes increased sensitivity to light. The variant analysed in this test, Oculocutaneous Albinism Type 1 (OCA1), is also known as Himalayan coat colour. It is an extremely rare trait, found in the Dachshund, and is likely caused by a recessive mutation to the gene TYR.

Polyneuropathy (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.

Vitamin D-Resistant Rickets (VDR) – Pug

Vitamin D Resistant Rickets (VDR or VDR1A), Type IA, is a hereditary disorder found in Pugs. It is primarily caused by an autosomal recessive mutation in the CYP27B1 gene. This gene encodes the enzyme responsible for converting vitamin D into its active form, making the gene essential for regulating calcium and phosphorus metabolism. In VDR1A, the mutation can make the enzyme inactive or less effective, which reduces or blocks the activation of vitamin D. As a result, young dogs may develop serious bone and teeth deformities, along with growth problems.

Blood Type AB Serology (External Lab)

Les différences dans les groupes sanguins entre un chat et les chatons à naître peuvent entraîner un danger pour les nouveau-nés. Le risque peut être évalué en établissant les groupes sanguins des parents. Les conseils d’élevage peuvent être utilisés pour prévenir les combinaisons potentiellement mortelles de groupes sanguins. Un test n’est pas une garantie pour une prévention complète de la mort des nouveau-nés.

Lorsqu’un chaton avec le sérotype A (ADN: N / N ou N / b) est né d’une mère avec le sérotype B (ADN: b / b), le chaton peut mourir parce que le lait maternel peut contenir des anticorps contre le sérotype A du chaton.

Le but de la reproduction devrait être d’empêcher une chatte avec le sérotype B (ADN: b / b) d’avoir une progéniture avec le sérotype A (ADN: N / b). Par conséquent, il est recommandé d’élever une chatte de sérotype B (ADN: b / b) à un taureau avec sérotype B (ADN: b / b).

Progressive Retinal Atrophy (crd1-PRA) – American Staffordshire Terrier

Cone-Rod Dystrophy (CRD) is a disorder of the photoreceptor cells of the eye, which can lead to early-onset blindness in affected dogs. This variant of the disorder, Cone-Rod Dystrophy, Type 1 (crd1, or crd1-PRA) is found in the American Staffordshire Terrier. It is caused by a recessive mutation to the gene PDE6B. A similar variant of the disease, called crd2, occurs in the Pit Bull Terrier.

Craniomandibular Osteopathy (CMO) – Terrier Type

Craniomandibular Osteopathy (CMO), also known as Lion Jaw, is a developmental bone disorder that causes bony lesions on the skull. Occurring in West Highland White Terriers, Scottish Terriers and Cairn Terriers, it is caused by a dominant mutation with incomplete penetrance to the Solute Carrier Family 37 Member 2 (SLC37A2) gene.

Because of its occurance in the West Highland White Terrier, the disorder is also known as Westie Jaw.

A closely related variant of the disorder is found in the Basset Hound.

Autosomal, recessive mutation

AUTOSOMAL, RECESSIVE MUTATION

Autosomal, recessive inheritance means that an animal may be clear (normal homozygote), affected (abnormal homozygote) or carrier (heterozygote). Carriers can pass on the mutation in the population without themselves developing the symptoms. This makes it especially important for carriers to be identified in order to prevent the disease from spreading.

Explanation for veterinarians:
• An animal is CLEAR/NORMAL and has two healthy alleles (normal homozygote). The animal will not acquire any symptoms.
• An animal is CARRIER and has one healthy allele and one defective allele (heterozygote). The animal will not acquire any symptoms.
• An animal is AFFECTED and therefore has two defective alleles (abnormal homozygote). The animal will acquire symptoms of the disease.

Explanation for breeders:
• An animal is CLEAR/NORMAL and has two healthy alleles (normal homozygote). The animal will not acquire any abnormalities when breeding and cannot pass on the abnormality to the next generation.
• An animal is a CARRIER and has one healthy allele and one defective allele (heterozygote). The animal will pass on the mutant (defective) gene to half of its offspring. In a number of cases carriers may also develop symptoms from the defective allele, but as a rule do not have any symptoms.
• An animal is AFFECTED and therefore has two defective alleles (abnormal homozygote). An affected will pass on the defective allele to all their offspring in the next generation, and will themselves develop the symptoms associated with the disease.

Inheriticance autosomal recessive	Parents	Reproductive cells	Offspring	Interpretation breeding	Interpretation veterinarian
NORMAL x NORMAL	AA and AA	A/A x A/A	100% AA	100% NORMAL	100% HEALTHY
NORMAL x CARRIER	AA and AB	A/A x A/B	50% AA 50% AB	50% CARRIER	100% HEALTHY
NORMAL x AFFECTED	AA and BB	A/A x B/B	100% AB	100% CARRIER	100% HEALTHY
CARRIER x CARRIER	AB and AB	A/B x A/B	25% AA 50% AB 25% BB	25% NORMAL 50% CARRIER 25% AFFECTED	75% HEALTHY 25% AFFECTED
CARRIER x AFFECTED	AB and BB	A/B x B/B	50% AB 50% BB	50% CARRIER 50% AFFECTED	50% HEALTHY 50% AFFECTED
AFFECTED x AFFECTED	BB and BB	B/B x B/B	100% BB	100% AFFECTED	100% AFFECTED

Luxation héréditaire primaire du cristallin – PLL

Primary Lens Luxation (PLL) is an eye condition in which the lens detaches from its normal attachments, leading to displacement (luxation), inflammation, glaucoma, and potential blindness. PLL is caused by an autosomal recessive mutation in the ADAM metallopeptidase with thrombospondin type 1 motif 17 (ADAMTS17) gene.

Oculoskeletal Dysplasia 1 (OSD1) / Retinal Dysplasia (RD) – Labrador Retriever

Oculoskeletal Dysplasia 1 (OSD1) is a genetic disorder characterized by dwarfism and retinal dysplasia (RD), potentially leading to joint deformities and vision loss. It can be caused by a recessive mutation in the collagen, type IX, alpha 3 (COL9A3) gene and has been identified specifically in the Labrador Retriever. COL9A3 plays an essential role in healthy cartilage and eye development. Therefore, a mutation in this gene can lead to skeletal and ocular abnormalities. A related variant also occurs in the Northern Inuit Dog, Tamaskan and British Timber Dog breeds.

Caryotypage – Cheval

Chez les équidés, le caryotypage est couramment utilisé pour diagnostiquer les causes génétiques de la baisse de la fertilité. Si des anomalies chromosomiques sont présentes, le caryogramme fournit une indication claire, facilitant des interventions ciblées ou des décisions éclairées de reproduction pour atténuer les problèmes de reproduction.

Le caryotypage permet de visualiser un ensemble complet de chromosomes à l’intérieur d’une cellule à l’aide d’un microscope optique. Le processus consiste à isoler les cellules du sang du cheval et à organiser leurs chromosomes en un caryogramme standardisé pour une analyse détaillée. En appliquant la bande G (coloration de Giemsa), un motif de bandes distinct apparaît, permettant d’identifier les anomalies chromosomiques. Ces anomalies peuvent inclure des trisomies, des délétions, des insertions, un hermaphrodisme, ainsi que des translocations réciproques et robertsoniennes.

Breed Identification – Dog

Each dog is unique with its individual physical and behavioral traits resulting from various factors like genetics, training and environment. This breed identification test can provide an insight into the breed ancestry of your dog. The test identifies the genetic breed makeup of all the possible pedigree trees in the last three generations. The potential breeds in the ancestry of your dog are determined by analyzing more than 1800 genetic markers. Testing procedures were designed to provide reliable and accurate results. This breed identification test is based upon a database of more than 350 validated breeds. If your dog contains other breeds, which are not actually available in the database, it may result in the identification of breeds, or a combination of breeds, related to the breeds in the ancestry of your dog.

Haemophilia A (HEMA-2) – German Shepherd

Haemophilia A, also known as Factor VIII Deficiency, is the most prevalent bleeding disorder in dogs. This X-linked recessive condition is triggered by a mutation in the gene F8, which severely compromises the blood’s clotting ability. Dogs affected by Haemophilia A may exhibit symptoms like spontaneous internal bleeding or uncontrolled bleeding following injuries or surgical procedures. These manifestations are a result of the impaired clotting mechanism in the bloodstream. As an X-linked recessive disorder, it predominantly affects male dogs, while female dogs usually act as carriers.
This specific variant of the disease (HEMA-2)occurs in the German Shepherd. Different variants of the mutation are found in other breeds including the Irish Setter, Miniature Schnauzer, Boxer, Old English Sheepdog and the Rhodesian Ridgeback.

Gène de performance du pigeon 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.

H-Locus (Harlequin)

The 20S proteasome β2 subunit (PSMB7) gene is responsible for the Harlequin coat pattern in Great Danes. This gene is also known as H-Locus. Harlequin is a pattern resulting from interaction of the Merle (M-locus) gene and the Harlequin (H-locus) gene on black pigment. The Harlequin gene can modify the Merle gene. The Harlequin pattern is only expressed if on the M-locus at least one copy of the M allele is present in combination with at least one copy of the E or Em allele on the E-locus. Dogs that are not merle, or only have red pigment, cannot express the Harlequin gene. The dominant Merle gene, by itself produces dark spots on a diluted background. If a Merle dog also inherits one copy of the Harlequin gene, the dark spots increase in size and the background pigment is removed (turns white). The Harlequin mutation in Great Danes is in homozygous state (two copies of the mutation) considered embryonic lethal as no live dogs with two copies of the mutation have been observed. This means that pups that are homozygous for the Harlequin mutation do not develop in the uterus and are reabsorbed very early in the development process. Therefore all Harlequin patterned dogs have only 1 copy of the Harlequin mutation. The Coat colour H-locus (Harlequin) test (H316) tests for the genetic status of the H-locus. This gene has two variants (alleles), H and N. The allele H is dominant. One copy of the H allele, together with at least one copy of both the M allele for the M-locus and the E allele for the E-locus results in dogs with the Harlequin pattern. Two copies of the H allele result in early embryonic death. The allele N does have no effect on the coat colour.

The Coat colour H-locus (Harlequin) test encloses the following results.

H-Locus	Coat Colour
N/N	No Harlequin pattern unless modified by other colour modifying factors, only allele N will be passed on to an offspring
N/H	Harlequin mutation is present. In order to express the Harlequin pattern the dog must carry at least one copy of both the M-allele for the M-locus and the E-allele for the E-locus. Either allele N or P will be passed on to an offspring

Haemophilia A (HEMA-1) – German Shepherd

Haemophilia A, also known as Factor VIII Deficiency, is the most prevalent bleeding disorder in dogs. This X-linked recessive condition is triggered by a mutation in the gene F8, which severely compromises the blood’s clotting ability. Dogs affected by Haemophilia A may exhibit symptoms like spontaneous internal bleeding or uncontrolled bleeding following injuries or surgical procedures. These manifestations are a result of the impaired clotting mechanism in the bloodstream. As an X-linked recessive disorder, it predominantly affects male dogs, while female dogs usually act as carriers.
This specific variant is found in the German Shepherd and is known as HEMA-1. A different variant is found in other breeds including the Irish Setter, Miniature Schnauzer, Boxer, Old English Sheepdog, and the Rhodesian Ridgeback.

Leukodystrophy (LEP, TSEN54-related) – Schnauzer

Leukodystrophy is a class of neurological disorders in which the white matter of the brain degenerates, which can cause progressive signs such as a loss of coordination, tremors, limb weakness and potentially death. It is also known as Leukoencephalopathy (LEP). This variant of the disease, found in the Standard Schnauzer, is caused by a recessive mutation to the tRNA splicing endonuclease subunit 54 (TSEN54) gene.

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AUTOSOMAL, RECESSIVE MUTATION