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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.

Congenital Eye Malformation (CEM) – Golden Retriever

Congenital Eye Malformation (CEM) in the Golden Retriever is a highly variable eye disease. It is caused by an incompletely dominant mutation of the SIX6 (SIX homeobox 6) gene. This SIX6-linked eye defect is also known as Retina Dysplasia and/or Optic Nerve Hypoplasia.

Protein Losing Nephropathy (PLN, 2 variants)

Protein Losing Nephropathy (PLN) is a condition in which the kidneys lose significant amounts of protein, particularly albumin, into the urine. This happens when the kidney’s filtration system (specifically the glomeruli) becomes damaged, allowing proteins that should be retained in the blood to pass into the urine. This leads to muscle wasting, abnormal fluid accumulation in the skin and limbs, and kidney failure.

Dogs carrying one or two copies of the mutations are at risk for developing PLN, with those possessing two copies having a significantly higher likelihood of the disease. However, this mutation is incompletely penetrant, indicating that other genetic and environmental factors also play a role in the disease’s development.

Risk assessment for PLN in the Soft Coated Wheaten Terrier and Airedale Terrier can be done by screening for two different mutations (one on gene KIRREL2 and one on gene NPHS1) that both code for proteins that determine the size of the molecules that can be filtrated by the kidneys.

In dogs, PLN can lead to a variety of symptoms, primarily related to the loss of protein and its effects on body functions. Symptoms may include fluid accumulation in the abdomen, skin, and limbs, and, ultimately, kidney failure. Also weight loss, weakness and lethargy, decreased appetite, vomiting or diarrhea, dehydration and increased (foamy) urine can be observed.

Dogs homozygous for the PLN-predisposing haplotype, and thus have the amino acid substitutions in both NPHS1 and KIRREL2, are at very high increased risk of developing PLN compared to dogs that are heterozygous or homozygous for the ‘‘normal’’ haplotype or alleles. Both the mutations in KIRREL2 and NPHS1 are tested in this combined test for PLN.

Enanismo (Dwarfismo) ACAN D1, D2, D3 MEJORADO, 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.

Síndrome de insensibilidad andrógeno – AIS 2

Androgen Insensitivity Syndrome (AIS) is a genetic condition passed down through the X chromosome. It is caused by a mutation in the androgen receptor (AR) gene, which prevents androgens (male hormones) from working properly during embryo development. Therefore, the normal development of male traits in horses with male chromosomes (46XY) is disrupted. Depending on how sensitive the androgen receptors are to the hormone, the horse’s appearance can vary from female-like genitalia to male-like genitalia, but with issues with infertility.

This variant occurs in Warmblood horses.

Leopard Complex Spotting (LP) and Congenital Stationary Night Blindness (CSNB1)

Leopard Complex Spotting (LP), also known as Coat Colour Appaloosa pattern or Appaloosa spotting, refers to the leopard-like coat pattern distinctive to the Appaloosa breed, characterized by a white coat flecked with small, dark spots. This trait is caused by an autosomal incompletely dominant mutation in the Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) gene. The resulting phenotype varies depending on whether the horse is homozygous or heterozygous. Horses that are homozygous have typically little to no leopard spots, while heterozygous horses display pigmented spots within the white-patterned areas of their coat. The extent of white in leopard complex-patterned horses is influenced by other genes, including PATN1, for which testing is also available. Breeds most commonly associated with this gene include the American Miniature Horse, Appaloosa, Australian Spotted Pony, British Spotted Pony, Knabstrupper, Miniature Horse, Noriker, Pony of the Americas, Falabella and Thoroughbred.

Horses homozygous for the mutation are also affected by Congenital Stationary Night Blindness (CSNB), a condition that causes an inability to see in low-light conditions.

Síndrome del potro frágil de sangre caliente – WFFS

Warmblood Fragile Foal Syndrome (WFFS) type I, also known as Foal Fragile Syndrome (FFS) type I, is a fatal genetic disorder that affects connective tissue. The condition causes hyperextensible, exceptionally thin, and fragile skin along with delicate mucous membranes, making them highly prone to developing open lesions. It is caused by an autosomal recessive mutation in the PLOD1 gene, which encodes an enzyme essential for collagen production. The FFS mutation primarily occurs in warmblood breeds and is present at a low frequency in thoroughbreds.

Primary Open Angle Glaucoma (POAG) – Basset Fauve de Bretagne

Primary Open Angle Glaucoma (POAG) is an eye disorder that builds up pressure in the eye and affects the nerves of the retina, damaging vision. This variant of the disease, caused by a recessive mutation to the gene ADAMTS17, occurs in the Basset Fauve de Bretagne. Similar variants also occur in the Basset Hound, Petit Basset Griffon Vendéen, and Chinese Shar-Pei/Shar Pei/Sharpei.

Síndrome de insensibilidad andrógeno – AIS

Androgen Insensitivity Syndrome (AIS) is a genetic condition passed down through the X chromosome. It is caused by a mutation in the androgen receptor (AR) gene, which prevents androgens (male hormones) from working properly during embryo development. Therefore, the normal development of male traits in horses with male chromosomes (46XY) is disrupted. Depending on how sensitive the androgen receptors are to the hormone, the horse’s appearance can vary from female-like genitalia to male-like genitalia, but with issues with infertility.

This variant occurs in American Quarter Horses.

Neuroaxonal Dystrophy (NAD) – Schnauzer and Beagle

Neuroaxonal dystrophy (NAD) in dogs is a hereditary condition that affects the nervous system. In the condition, there is swelling of cells in the brain which affect the communication with nerve cells. NAD can be present at birth or develop later in a dog’s life, leading to neurological dysfunction and loss of coordination.

There are multiple variants of mutations known in different breeds. This lethal variant of the disease, also known as Fetal-Onset Neuroaxonal Dystrophy (FNAD), was first observed in a Schnauzer and Beagle cross. It is caused by a recessive mutation to the gene MFN2.

Color de capa: Blanco salpicado 2

The White Spotting coat colour pattern in horses can be caused by any in a wide array of related mutations. The resulting pattern can vary anywhere between white markings on the face and legs, up to a completely white coat. Depending on both breed and pattern, variants of the White Spotting phenotype may be referred to as Splashed White, Dominant White, Tobiano or Sabino, among others.

The specific variant analysed in this test, known as Splashed White 2 (SW2), is caused by an incomplete dominant mutation to the paired box 3 (PAX3) gene. It is found in the Lipizzaner horse, Noriker and Quarter Horse breeds and is recently renamed into Auditory-pigmentary syndrome.

Charcot-Marie-Tooth Neuropathy (CMT, DP, SBF2-related) – Schnauzer

Charcot-Marie-Tooth (CMT) type 4B2 is part of a a broad category of neuromuscular diseases called Demyelinating polyneuropathy (DP) and causes muscle weakness and loss of sensation. CMT is caused by a recessive mutation to the SET binding factor 2 gene (SBF2, also known as MTMR13 gene). It has been observed in the Miniature Schnauzer.

Deficiencia del factor VII

Canine Coagulation Factor VII is an important protein involved in blood clotting in dogs. Deficiency in Factor VII causes a bleeding disorder, which can lead to dangerously uncontrolled bleeding in the case of injury or surgery. The disorder occurs in a wide range of breeds, including the Airedale Terrier, Beagle, German Wirehaired Pointer and Scottish Deerhound. It is caused by a recessive mutation to the gene F7.

Color de capa Roano – Caballo

El color del pelaje roano es un patrón blanco con una mezcla de pelos blancos y de color sobre el cuerpo, mientras que la cabeza, la parte inferior de las piernas, la melena y la cola permanecen coloreadas. En los caballos que heredan el gen Roan clásico, los pelos blancos y de color se mezclan uniformemente en comparación con los caballos que tienen una distribución desigual de pelos blancos llamada patrón Roaning. Para este patrón, la herencia no ha sido definida.

En la literatura se sugiere que el color del pelaje roano es homocigoto letal, pero la evidencia de los estudios con la raza de caballo cuarto de milla indica lo contrario. Los caballos Quarter horse roanos que producen potros 100% roanos existen en la población.

REM Sleep Behaviour Disorder (RBD) – Russian Blue

REM Sleep Behaviour Disorder (RBD), also known as Hereditary Encephalopathy, is a neurological disorder identified in Russian Blue cats. It is caused by an autosomal recessive frameshift mutation in the FAM8A1 gene. This hereditary condition appears to affect both neurological function and bladder control. So far (2025), the mutation has only been observed in Russian Blue cats and has not yet been detected in related breeds.

Miopatía por almacenamiento de polisacáridos – PSSM1

Polysaccharide Storage Myopathy 1 (PSSM1 or PSSM Type 1) is a muscle disorder characterized by the abnormal buildup of glycogen (complex sugars) in skeletal muscle cells. This excess glycogen leads to the breakdown of muscle fibers, resulting in a range of symptoms, from muscle atrophy and progressive weakness to muscle soreness and gait abnormalities. PSSM Type 1 is caused by an incomplete autosomal dominant mutation in the glycogen synthase 1 (GYS1) gene.

Progressive Retinal Atrophy (GUCY2D-PRA)

Progressive Retinal Atrophy (PRA) is a large group of inherited eye diseases that cause blindness in various breeds of dogs. The blindness is caused by gradually degeneration of cells in the retina over time, causing a progressive loss of vision. This early-onset variant of the disease occurs in the German Spitz. It is caused by a recessive mutation to the guanylate cyclase 2D (GUCY2D gene), which is expressed in the retinal cells.

S-Locus (Piebald)

Los patrones de manchas blancas que aparecen en muchas razas de perros no tienen una base genética uniforme. El gen del Factor de Transcripción Asociado a la Microftalmia (gen MITF) está asociado con muchos patrones de manchas blancas. Este gen también es conocido como S-locus. Hay tres patrones principales de manchas blancas descritos. Un patrón se llama manchado irlandés y es un patrón simétrico con marcas blancas en la parte inferior, el cuello y el hocico, y / o el fuego, como lo demuestran razas como el Boston Terrier, Corgi, el Boyero de Berna y Basenji. Otro patrón de manchas blancas menos simétricas en las que aparecen manchas blancas aleatorias en el cuerpo del perro a menudo se llama picazo, parti o blanco aleatorio y se observa en varias razas, incluyendo el Beagle y el Fox Terrier. El tercer patrón principal se llama blanco extremo y da como resultado un perro que es casi completamente blanco, pero generalmente tiene al menos algo de color en la cabeza. Además, hay un patrón llamado manto, este patrón es similar al manchado irlandés pero con más blanco extendiéndose sobre el muslo y hacia arriba del torso, como se ve en algunos grandes daneses. Otro patrón similar a la observación irlandesa se llama flash o pseudo-irlandés y ocurre en los Boxers. Una mutación que se encuentra en el gen MITF está asociada con el patrón de moteamiento piebald (varios colores) en más de 25 razas de perros diferentes. La prueba Color Piebald (H326) evalúa el estado genético de esta mutación. Resulta en dos variantes (alelos). El alelo N no produce un patrón Piebald, por lo tanto, los perros con dos copias del alelo N no muestran el patrón Piebald. El alelo S está asociado con el patrón Piebald, sin embargo, la cantidad de manchas blancas expresadas varía de una raza a otra y entre individuos dentro de una raza. En muchas razas, como Collie, Gran Danés, Greyhound italiano, Shetland Sheepdog, Boxer y Bull Terrier, Piebald se comporta como un rasgo dependiente de la cantidad de gen. En esas razas el alelo S es semi-dominante. Una copia del alelo S (S / N) da como resultado un patrón de manchas blancas limitado. Los perros con dos copias del alelo S (S/S) muestran un blanco más extremo con color sólo en la cabeza y quizás en una mancha corporal. En Boxers y Bull Terriers, los perros que tienen dos copias del alelo S (S / S) son completamente blancos, mientras que los perros que solo tienen una copia del alelo S (N / S) muestran el patrón del manto (llamado destello en estas razas). Sin embargo, las mutaciones adicionales en MITF u otros genes de manchas blancas que afectan la cantidad de blanco que se expresa parecen estar presentes en estas razas. En algunas otras razas, el alelo S es recesivo y en esas razas se necesitan dos copias para producir el patrón piebald.

La prueba de Color de Capa Piebald incluye los siguientes resultados:

Gen MITF	Coat Colour
S/S	El perro tiene dos copias de la mutación de piebald, la cantidad de manchas blancas expresadas depende de la raza y varía entre los individuos dentro de una raza
S/N	El perro tiene una copia de la mutación de piebald, la cantidad de manchas blancas expresadas depende de la raza y varía entre los individuos dentro de una raza
N/N	Sin manchado de manchas, solo el alelo N se pasará a la descendencia

Oculoskeletal Dysplasia 2 (OSD2) / Retinal Dysplasia (RD) – Samoyed

Oculoskeletal Dysplasia 2 (OSD2) is a genetic disorder characterized by dwarfism and retinal dysplasia (RD), potentially leading to joint deformities and vision loss. It is caused by a recessive mutation in the collagen, type IX, alpha 2 (COL9A2) gene and has been identified specifically in Samoyed dogs. COL9A2 plays an essential role in healthy cartilage and eye development. Therefore, a mutation in this gene can lead to skeletal and ocular abnormalities.

Trombastenia de Glanzmann (GT) 1 – Perro

La trombastenia, también conocida como Trombastenia de Glanzmann (GT), es un trastorno hemorrágico caracterizado por el desarrollo de plaquetas defectuosas. Normalmente, las plaquetas se adhieren entre sí para detener el flujo de sangre durante la lesión hasta que se produce la coagulación y la reparación de los tejidos. Los perros con GT tienen recuentos plaquetarios normales, pero tienen una agregación plaquetaria anormal y coagulación de la sangre que puede provocar sangrado potencialmente mortal.

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