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Parentage Verification Dog – ASCA (SNP)

This product includes parentage verification and DNA profiling of the offspring. If the DNA profile of the (expected) parent(s) is unavailable, a separate DNA profile needs to be ordered.

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.

If the DNA profile of the parent(s) is performed in a laboratory other than VHL / CTG / VHP, it can occur the profile of the offspring can’t be compared with the profiles of the parents. The reason can be the testing of other hereditary characteristics at the other laboratory.

Dominant Blue Eyes (DBE) – Cat (3 variants)

Dominant Blue Eyes (DBE) in cats are typically associated with a lack of melanin in the iris. It is often due to genetics and is commonly seen in certain breeds. One of the genes involved in this trait is the Paired Box 3 (PAX3) gene. Mutations in the gene can result in white spotting, deafness, pigmentary disturbances in one or two eyes and in some cases also embryonic or fetal lethality.
There are multiple known mutations. In this test, 3 variants are analysed. The Information about individual tests is available in the section ‘Included Tests’ on this page.

Please be aware that test K505 DBE for Celestial Maine Coons is (temporarily) no part of this package due to potential false-positive results that we are currently resolving with the author of the publication.

Polydactyly (3 variants) – Cat

Polydactyly is an anatomical condition where an animal has more toes than usual. Multiple variants are known, the most well known variant is the “Hemmingway mutation” that occurs in Main Coons, also known as Hw.

Polydactyly in cats, a birth defect, results in more than 18 digits. Extra toes can appear on any paw, in various combinations, and their occurrence follows an irregular statistical pattern. Polydactyly doesn’t influence the overall health of a cat. It is not painful or harmful and it doesn’t lead to more health issues.

At CombiBreed, the three above variants are tested together as a package. Results of all three mutations will be given. For more information about each test, read the description at the individual test. Other polydactyly variants exist but the causal mutations for these variants have not been discovered yet. Therefore they cannot be tested.

E-Locus (Extension)

The Extension gene (MCR1 gene) controls the production of black and red pigment. In cats, shades of red color are determined by the dominant Orange gene (O-locus) located on the X chromosome. The genetic background of the O-Locus is still unknown. The Extension gene is also known as E-locus. The Coat Colour E locus, extension test (K639) tests for the genetic status of the E-locus. The E-locus has two variants (alleles). It is presumed that (almost) all cats are fixed for the dominant allele E, they have two copies of the dominant allele E and based on this gene alone could produce both red and black pigment. The recessive allele e results in kittens that are born with a black/brown tabby pattern (blue/apricot in dilute cats). As the kittens mature, the black/blue pigment is replaced by yellow resulting in the golden coat coloration seen in adult cats. Originally it was named X Colour, now it is called Amber. The recessive allele can be present in the Norwegian Forest cat and traces back to a single female ancestor from Norway born in 1981. Cats with two copies of the allele e only have the Amber Coat Colour when the dominant O allele at the O-locus is not present.

The Coat Colour E Locus, extension test encloses the following results, in this scheme the results of the Coat Colour E Locus, extension test are shown in combination with the possible results for the O-locus. For the O-locus no DNA test is available:

E-locus	O-locus (no DNA test available)	Coat Colour
E/E	O/O, O/o or o/o (female)	Not Amber
E/E	O/- or o/- (male)	Not Amber
E/e	O/O, O/o or o/o (female)	Not Amber
E/e	O/- or o/- (male)	Not Amber
e/e	o/o (female) or o/- (male)	Amber
e/e	O/O (female) or O/- (male)	Red
e/e	O/o (female)	Amber/red tortoiseshell

W-Locus / S-Locus (Dominant White and White Spotting)

Dominant White and White Spotting are controlled by the KIT-gene. Dominant white is also described as the W-locus and White Spotting as the S-locus. The gene/genes controlling the pattern of White Spotting is still unknown. Additionally, not all white spots or patterns result from the KIT-gene as other genes can also have mutations that result in depigmentation phenotypes.

The KIT-gene has three variants (alleles). The DW allele is dominant over the alleles Ws and N; allele Ws is dominant over allele N. The dominant allele DW results in a white coat colour. The allele Ws in white spotting and the allele N has no effect on the coat colour.

Dominant White is distinct from albinism (C-locus) which results from a mutation in theTYR (tyrosinase) gene that has no known impact on hearing. One or two copies of the DW allele will result in a white cat with varying degrees of hearing impairment.

The Dominant White & White Spotting test encloses the following results:

Dominant White & White Spotting (W- en S-locus)	Coat Colour
N/N	Not white and no white spotting
N/DW	White
DW/DW	White
N/Ws	Cat has white spotting
DW/Ws	White
Ws/Ws	Cat has white spotting

Ichthyosis – Jack Russell Terrier Type

Ichthyosis (also known as epidermolytic ichthyosis and lamellar ichthyosis) is a hereditary skin disorder, in Jack Russell Terriers and related breeds it is caused by an autosomal recessive mutation in the transglutaminase 1 (TGM1) gene. This gene encodes an enzyme that is essential for the formation of the skin barrier, as it helps bind structural proteins and lipids in the outer layer of the skin. The mutation leads to a loss or reduction of enzyme activity, resulting in an impaired skin barrier. Affected dogs typically develop signs early in life, which may include abnormalities of the skin and coat such as dryness, scaling, or altered texture. Although the condition is not life-threatening, it can cause chronic skin irritation and secondary infection, and requires ongoing management to maintain skin health.

Coat Colour Glitter

The glitter coat in cats is a structural variation of the hair shaft rather than a coat colour trait. The trait is caused by a mutation in the Fibroblast growth factor receptor (Fgfr2) gene. The Fgfr2 gene plays a role in embryonic development and organ formation. This mutation causes a moderate reduction in Fgfr2 activity, leading to alterations in hair morphology that produce the characteristic glitter effect. The trait is inherited in an autosomal recessive manner and has been identified in Bengal, Egyptian Mau and Toyger.

Coat Colour Salmiak

The lack of melanocytes, caused by mutations in the KIT proto-oncogene, is a primary reason for several white coat coloration across numerous domestic animal breeds. Originating in Finland, a recent recessive mutation in the KIT gene leads to cats with “frosted” white markings known as Salmiak or Salty Licorice.

A-Locus

The Agouti gene (ASIP gene) is responsible for the production of a protein that regulates the distribution of black pigment (eumelanin) within the hair shaft. This gene is also known as the A-locus and determines whether an animal expresses an agouti appearance, and if so what type, by controlling the distribution of pigment in individual hairs. The agouti pattern can be seen in both black-based and red-based colours. The coat colour is further complicated by the interaction with the K-locus and the E-locus. The agouti pattern is only expressed if on the K-locus no copy of the KB allele is present in combination with at least one copy of the E or Em allele on the E-locus. The Coat Colour A-Locus test (H820) tests for the genetic status of the A-locus. The A-locus has four variants (alleles). The most dominant allele is Ay, followed by aw, then at, then a. The dominant Ay allele produces a sable or fawn coat colour. The allele aw produces a colour known as wild sable or wild type. With this colouration, the hairs switch pigmentation from black to reddish or fawn. This colour is sometimes seen in German Shepherds and other shepherd breeds. The allele at results in tan points (tan markings on a dark dog) and produces black-and-tan and tricolour dogs. A tricolour dog is black-and-tan plus white. The allele a is also called the recessive black allele and results in a solid black/brown/blue/lilac or bicolour dog. Some breeds are fixed for only one variant. The Norwegian Elkhound is fixed for the aw allele and the Beagle is fixed for the at allele. In many breeds 2 or 3 alleles are present.

The Coat Colour A-Locus test encloses the following results.

A-Locus	Coat Colour
Ay/Ay	Fawn/Sable, only allele Ay will be passed on to an offspring
Ay/aw	Fawn/Sable, either allele Ay or aw will be passed on to anan offspring
Ay/at	Fawn/Sable, either allele Ay or at will be passed on to an offspring
Ay/a	Fawn/Sable, either allele Ay or a will be passed on to an offspring
aw/aw	Wild sable/Wild type, it can only pass on allele aw will be passed on to an offspring
aw/at	Wild sable/Wild type, either allele aw or at will be passed on to an offspring
aw/a	Wild sable/Wild type, either allele aw or a will be passed on to an offspring
at/at	Tan Points/Black-and-tan/Tricolour, it can only pass on allele at will be passed on to an offspring
at/a	Tan Points/Black-and-tan/Tricolour, either allele at or a will be passed on to an offspring
a/a	Solid Black(Brown/Blue/Lilac)/Bicolour, it can only pass on allele a will be passed on to an offspring

M-Locus (Merle)

The Silver gene (SILV gene), also called premelanosome protein (PMEL17 gene) is responsible for Merle. This gene is also known as M-Locus. Merle only dilutes eumelanin (black) pigment; dogs with two copies of the allele e (homozygous e/e) at E-Locus have no black pigment, thus do not express merle. Merle is an incompletely dominant coat color pattern characterized by irregularly shaped patches of diluted pigment and solid color. Blue and partially blue eyes are typically seen with merle, and merle dogs often have a wide range of auditory and ophthalmologic defects. Breeds with merle coat pattern are Shetland Sheepdog, Collie, Border Collie, Australian Shepherd, Cardigan Welsh Corgi, Catahoula Leopard Dog, Dachshund, Great Dane, Bergamasco Sheepdog and Pyrenean Shepherd. The Coat Colour Merle test (H630) tests for the genetic status of the M-locus. The M-locus has three variants (alleles): M (merle, SINE with longer poly-A tail), Mc (cryptic merle, SINE with shorter poly-A tail) and N (non-merle, no SINE insertion. Dogs with cryptic merle (also called phantom or ghost merle), typically display little to no merling and some may be misclassified as non-merles.

The Coat Colour Merle test encloses the following results.

M-Locus	Coat Colour
M/M	Merle coat colour, two copies of merle are present (double merle). Dog may exhibit auditory and ophthalmologic defects
M/Mc	Merle coat colour, One copy of merle and one copy of cryptic merle are present. Dog may exhibit auditory and ophthalmologic defects
M/N	Merle coat colour, one copy of merle is present. Dog may exhibit auditory and ophthalmologic defects
Mc/Mc	Cryptic-merle, two copies of cryptic merle are present. The dog is genetically healthy with regards to the merle factor
Mc/N	Cryptic-merle, one copy of cryptic merle is present, the dog is genetically healthy with regards to the merle factor
N/N	Non-merle, no copies of merle or cryptic merle are present, the dog is genetically healthy with regards to the merle factor

Congenital Hypomyelinating Polyneuropathy (HPN, 3 variants) – Golden Retriever

Congenital Hypomyelinating Polyneuropathy (HPN) is an inherited neurological disorder that primarily affects the peripheral nervous system. It is the canine variant of n Charcot-Marie-Tooth Neuropathy occurring in humans. It is characterized by abnormal development or insufficient formation of myelin sheet, which is a protective covering around nerve fibers. Myelin is essential for the proper transmission of nerve signals, and without it, nerve function is impaired.

In Golden Retrievers there are currently three mutations found in different genes that cause HPN. These are probably all inherited in an autosomal dominant way. The mutations that are tested for are found in the myelin protein zero (MPZ) gene, the myotubulin-related protein 2 (MTMR2) gene and the SH3 domain and tetratricopeptide repeats 2  gene (SH3TC2).

All three mutations (MTMR2, MPZ, SH3TC2) lead to similar symptoms: muscle weakness, ataxia, tremors, hypotonia (low muscle tone), and delayed motor development. The severity and progression of these symptoms can vary; MPZ mutations may lead to more severe muscle wasting or atrophy over time, while SH3TC2 and MTMR2 mutations tend to primarily cause weakness and coordination problems without significant muscle wasting.

The mutations can present early in life, often between 2 to 6 months of age. However, signs can sometimes be detected in younger puppies, particularly if the symptoms are more severe.

Coat Colour White Spotting – W19

The Dominant White 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 Dominant White phenotype may be referred to as Splashed White, White Spotting, Tobiano or Sabino, among others.

The specific variant analysed in this test, known as Dominant White 19 (W19), is caused by an incomplete dominant mutation to the gene KIT. It has been observed in the Arabian horse.

Coat Colour White Spotting – W10

The Dominant White 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 Dominant White phenotype may be referred to as Splashed White, White Spotting, Tobiano or Sabino, among others.

The specific variant analysed in this test, known as Dominant White 10 (W10), is caused by an incomplete dominant mutation to the gene KIT. It has been observed in the American Quarter Horse.

Couleur de la robe Sabino 1

The Dominant White 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 Dominant White phenotype may be referred to as Splashed White, White Spotting, Tobiano or Sabino, among others.

The specific variant analysed in this test, known as Sabino 1 (SB1), is caused by an incomplete dominant mutation to the gene KIT. It has been observed in the American Quarter Horse, Appaloosa, Haflinger, Lipizzaner and Noriker.

Glanzmann’s Thrombasthenia (GT) 2 – Dog

Glanzmann’s Thrombasthenia (GT) is a bleeding disorder caused by defective platelets, which can result in uncontrolled bleeding. This variant of the disease, Type I Glanzmann’s Thrombasthenia, is caused by a recessive mutation to the gene ITGA2B. It is observed in the Great Pyrenees. A related variant is found in the Scottish Deerhound.

Incontinentia pigmenti – IP

Incontinentia Pigmenti (IP) in horses is a skin and tissue disorder. It is linked to a semi-dominant mutation in a gene that is involved in the development of the ectoderm, the outermost layer of cells in the embryo, which gives rise to skin, hair, hoof walls (the equine equivalent of nails), and other skin-related structures. This gene is called the IKBKG gene (“inhibitor of nuclear factor kappa B kinase regulatory subunit gamma”). The mutation in this gene is homozygous lethal and located on the X-chromosome. This means that IP symptoms can only be seen in carrier female individuals while carrier males and affected females die during development in utero. It is observed in the American Quarter Horse and Warmblood breeds.

Coat Colour White Spotting – W20

The Dominant White 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 Dominant White phenotype may be referred to as Splashed White, White Spotting, Tobiano or Sabino, among others.

The specific variant analysed in this test, known as Dominant White 20 (W20), is caused by an incomplete dominant mutation to the gene KIT. It has been observed in a wide variety of horse breeds.

Coat Colour White Spotting – W18

The Dominant White 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 Dominant White phenotype may be referred to as Splashed White, White Spotting, Tobiano or Sabino, among others.

The specific variatn analysed in this test, known as Dominant White 18 (W18), is caused by an incomplete dominant mutation to the gene KIT. It has been observed in the Swiss Warmblood.

Musladin-Lueke Syndroom (MLS)

Musladin-Lueke Syndrome is a heritable disease specific to Beagles which causes tightened skin, stiff joints and a “ballerina”-like tip-toed gait. Originally called Chinese Beagle Syndrome, it was renamed after prolific Beagle breeders Anton Musladin and Ada Lueke. It is a recessive disorder, caused by a defective ADAMTSL2 gene.

Coat Colour White Spotting – W4

The Dominant White 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 Dominant White phenotype may be referred to as Splashed White, White Spotting, Tobiano or Sabino, among others.

The specific variant analysed in this test, known as Dominant White 4 (W4), is caused by an incomplete dominant mutation to the gene KIT. It has been observed in the Camarillo White Horse.

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