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Pyruvate Kinase Deficiency (PK Deficiency) is a disorder of the red blood cells, which can result in anaemia and abnormal bone development. It is caused by a recessive mutation to the PKLR gene. The variant analysed in this test is found in the West Highland White Terrier. Related variants are also found in the Basenji, Labrador Retriever, Pug and Beagle.
La displasia oculosscheletrica 1 (OSD1) è una malattia genetica caratterizzata da nanismo e displasia retinica (RD), che può portare a deformità articolari e perdita della vista. Può essere causata da una mutazione recessiva nel gene del collagene, tipo IX, alfa 3 (COL9A3) ed è stata identificata specificamente nel Labrador Retriever. COL9A3 svolge un ruolo essenziale nella salute della cartilagine e nello sviluppo degli occhi. Pertanto, una mutazione in questo gene può portare ad anomalie scheletriche e oculari. Una variante correlata si verifica anche nelle razze Northern Inuit Dog, Tamaskan e British Timber Dog.
Trapped Neutrophil Syndrome (TNS) is a hereditary immune disease common to Border Collies. Affected dogs’ bone marrow is unable to properly release white blood cells into the bloodstream, causing various bodily complications as well as an extreme vulnerability to infections due to a poor immune system. TNS is therefore often fatal within the first year. It is caused by a recessive mutation to the gene VPS13B.
Haemophilia B, also called Factor IX Deficiency or Christmas Disease, is a blood disorder that impairs clotting, which can lead to uncontrolled bleeding. It is caused by an X-linked recessive mutation to the gene F9. There are many known variants of Haemophilia B, each specific to a particular dog breed. The variant analysed in this test is found in the Lhasa Apso.
Haemophilia B, also called Factor IX Deficiency or Christmas Disease, is a blood disorder that impairs clotting, which can lead to uncontrolled bleeding. It is caused by an X-linked recessive mutation to the gene F9. There are many known variants of Haemophilia B, each specific to a particular dog breed. The variant analysed in this test is found in the Newfoundland.
Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This specific variant of the disorder, known as Rod-Cone Dysplasia 1a (rcd1a or rcd1a-PRA), is caused by a recessive mutation to the gene PDE6B. It is found in the Sloughi.
Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This early-onset variant of the disease, known as Rod-Cone Dysplasia 1 (rcd1), occurs in the Irish Setter. It is caused by a recessive mutation to the gene PDE6B.
Malignant Hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle elicited upon exposure to inhalation anesthetics and depolarizing muscle relaxants. It is considered to be a clinical syndrome rather than a single disease because multiple environmental and genetic factors cause a complex of events. MH has also been reported in humans, pigs, cats and horses.
Erythrocytic Pyruvate Kinase Deficiency (PK Deficiency) is a disorder of the red blood cells, which can result in anaemia and abnormal bone development. It is caused by a recessive mutation to the PKLR gene. The variant analysed in this test is found in the Labrador Retriever; related variants are also found in the Basenji, West Highland White Terrier, Pug and Beagle.
Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This variant of PRA, known as Autosomal Dominant Progressive Retinal Atrophy (ADPRA), is found in the Bullmastiff and English Mastiff. It is caused by a dominant mutation to the gene RHO.
La leucodistrofia a cellule globoidi (GLD), nota anche come malattia di Krabbe, è un grave disturbo neurologico nei cani. È causata da una mutazione autosomica recessiva del gene della galattosilceramidasi (GALC) che porta a un deficit dell’enzima galattocerebrosidasi. Questo enzima è attivo nei lisosomi (parte della cellula di un animale) ed è fondamentale per la digestione e la rimozione dei rifiuti nelle cellule. A causa della mutazione, le sostanze tossiche si accumulano, causando danni al sistema nervoso, in particolare al cervello e al midollo spinale. La mutazione si trova nel setter irlandese.
Inoltre, una variante strettamente correlata è stata osservata nel Cairn Terrier e nel West Highland White Terrier.
La malattia di Krabbe, nota anche come leucodistrofia a cellule globoidi o deficit di GALC, è un grave disturbo metabolico che causa problemi neuromuscolari come debolezza e paralisi. È causata da una mutazione recessiva del gene GALC. La variante analizzata in questo test si verifica nel Cairn Terrier e nel West Highland White Terrier. Una variante strettamente correlata è stata osservata nel setter irlandese.
The dilute gene (MLPH gene) is responsible for the intensity of the coat colour by affecting the distribution of melanin-containing cells. This gene is also known as the D-Locus and dilutes all colours. Besides the hair colour also the colour of the nose is diluted and the colour of the eyes lightens to amber. The Coat Colour D-Locus Improved (MLPH) test (H847) tests for the genetic status of the D-Locus. The D-Locus has two variants (alleles). The allele D is dominant and does not have an effect on the coat colour. Only when the dog has two copies of the recessive allele d the coat colour is diluted. The dilution of black results in grey, also called blue or charcoal. The coat ranges from silver to almost black, but all have a blue nose. Chocolate/brown/liver dilutes into lilac/light tan/Isabella, their noses vary from pink, liver to isabella. Red/yellow/cream dilutes into champagne. In some breeds another, yet unidentified, mutation is present that causes coat colour dilution. This unidentified mutation is known to occur in Doberman Pinscher, French Bulldog, Italian Greyhound, Chow Chow and Shar-Pei.
The Coat Colour D-Locus Improved (MLPH) test encloses the following results, in this scheme the results of the Coat Colour D-Locus Improved (MLPH) test are shown in combination with the possible results for the E-Locus and B-Locus):
| D-Locus | E-Locus | B-Locus | Coat Colour | Nose/foot pads |
|---|---|---|---|---|
| D/D | Em/Em, Em/E or Em/e | B/B or B/b | Black, melanistic mask is not visible | Black |
| D/D | Em/Em, Em/E or Em/e | b/b | Brown/chocolate/liver, with melanistic mask | Pink to Brown |
| D/D | E/E or E/e | B/B,B/b | Black, no melanistic mask | Black |
| D/D | E/E or E/e | b/b | Brown/chocolate/liver, no melanistic mask | Pink to Brown |
| D/D | e/e | B/B,B/b | Red/Yellow/Cream | Black |
| D/D | e/e | b/b | Red/Yellow/Cream | Pink to Brown |
| D/d | Em/Em, Em/E or Em/e | B/B or B/b | Black, melanistic mask is not visible | Black |
| D/d | Em/Em, Em/E or Em/e | b/b | Brown/chocolate/liver, with melanistic mask | Pink to Brown |
| D/d | E/E or E/e | B/B,B/b | Black, no melanistic mask | Black |
| D/d | E/E or E/e | b/b | Brown/chocolate/liver, no melanistic mask | Pink to Brown |
| D/d | e/e | B/B,B/b | Red/Yellow/Cream | Black |
| D/d | e/e | b/b | Red/Yellow/Cream | Pink to Brown |
| d/d | Em/Em, Em/E or Em/e | B/B or B/b | Blue/Grey/Charcoal, melanistic mask is not visible | Blue to Black |
| d/d | Em/Em, Em/E or Em/e | b/b | Lilac/Light tan/Isabela, with melanistic mask | Pink to Brown |
| d/d | E/E or E/e | B/B,B/b | Blue/Grey/Charcoal, no melanistic mask | Blue to Black |
| d/d | E/E or E/e | b/b | Lilac/Light tan/Isabela, no melanistic mask | Pink to Brown |
| d/d | e/e | B/B,B/b | Champagne | Blue to Black |
| d/d | e/e | b/b | Champagne | Pink to Brown |
The Beta-defensin gene (CBD103 gene) produces dominant black vs. brindle vs. fawn coat colours. This gene is also known as the K-locus or Dominant black gene. The coat colour is further complicated by the interaction with the E-locus and the A-locus (agouti). The Coat Colour K-Locus (H819) tests for the genetic status of the K-Locus. The K-locus has three variants (alleles). The allele KB is dominant over the alleles kbr and ky; allele kbr is dominant over allele ky. The dominant allele KB, also called dominant black allele, does not allow the agouti gene to be expressed. A dog with at least one copy of the KB allele expresses a base colour, which is determined by the B- and E-Locus. The allele kbr results in brindling and allows the agouti to be expressed but causes brindling of the agouti patterns. The A-Locus (agouti) represents several different colours, such as fawn/sable, wild sable, tan points and recessive black. The allele ky allows the agouti to be expressed without brindling. When a dog has two copies of the ky allele (homozygous ky/ky) the agouti locus determines the dog’s coat colour. The test does not discriminate between the alleles kbr and ky.
The Coat Colour K-Locus test encloses the following results:
| K-Locus | Coat Colour |
|---|---|
| KB/KB | Self-colored (solid color in pigmented areas), hides expression of the A-locus, basic colour determined by B- and E-locus, only allele KB will be passed on to an offspring |
| KB/N | Self-colored (solid color in pigmented areas), hides expression of the A-locus, basic colour determined by B- and E-locus. The test does not discriminate between the alleles kbr and ky, N can be allele kbr or ky. The dog is KB/kbr or KB/ky, either allele KB or kbr/ky will be passed on to an offspring |
| N/N | The test does not discriminate between the alleles kbr and ky. N can be allele kbr or ky. The dog is kbr/kbr, kbr/ky or ky/ky. If the dog is kbr/kbr: Brindling and expression of A-locus, it can only pass on allele kbr to an offspring. If the dog is kbr/ky: Brindling and expression of A-locus, either allele kbr or ky will be passed on to an offspring. If the dog is ky/ky: Expression of A-locus without brindling, only allele ky will be passed on to an offspring. |
I Quarter Horse e i Purosangue possono essere affetti da una variante della Trombastenia di Glanzmann (GT), causata da una mutazione recessiva nel gene ITGA2B. Questa malattia emorragica causa una disfunzione delle piastrine, che si traduce in un’incapacità del sangue di coagulare correttamente. I segni clinici di solito si manifestano con sanguinamento della pelle, delle mucose e delle gengive, e possono includere anche lividi, epistassi (sanguinamento del naso) ed emorragie gastrointestinali.
La Trombastenia di Glanzmann nel Quarter Horse e nel Purosangue può essere testata con il test CombiBreed Trombastenia di Glanzmann (GT) 2 – Cavallo, con il numero di test P392.
Copper Toxicosis, otherwise known as Wilson Disease, is a complex genetic disease that occurs in several different dog breeds. A dog that retains too much copper from its diet suffers from copper toxicosis, which causes liver damage and associated negative effects.
In the Bedlington Terrier, a recessive mutation to the gene COMMD1 (also known as MURR1) is known to cause elevated copper levels, resulting in copper toxicosis.
While copper toxicosis also occurs in breeds such as the Doberman and Labrador Retriever, the disorder in those breeds is caused by a mutation to another gene, ATP7B.
Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physical coordination. This variant of the disease, known simply as Spinocerebellar Ataxia 2 (SCA2), is found in the Alpine Dachsbracke. It is caused by a recessive mutation to the gene SCN8A.
Myotonia Congenita (MC) is a hereditary neuromuscular disorder that causes muscles to be unable to relax after contracting, which can result in rigid limbs and falling over after startling. In cats, myotonia can be caused by several different recessive mutations to the gene CLCN1. This package tests for three different mutations.
Symptoms of MC can include a short-strided gait, protruding tongue, drooling and prominent muscle growth on the neck and upper limbs. After startling, affected cats may fall over, stiff-limbed, and be unable to rise again for several seconds. Veterinary pharmaceutical treatment with phenytoin has been documented to result in long-term improvement in symptoms in at least one case.
Dilated Cardiomyopathy (DCM) is a heart disorder characterised by enlargement of the heart (especially of the left ventricle), poor myocardial contractility, and congestive heart failure. This variant of the disorder, known as Juvenile Dilated Cardiomyopathy (JDCM), occurs in young dogs of the Manchester Terrier and English Toy Terrier breeds. It is caused by a recessive disorder to the gene ABCC9. The disorder is severe, and can cause sudden death of juvenile affected dogs.
Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination. The variant of the disorder analysed in this test is found in the Gordon Setter and Old English Sheepdog. It is caused by a recessive mutation to the gene RAB24.