Name: Miniature Short-Haired Dachshund DNA Health Panel
Brand: The Pet Genetics Lab
Price: 149.0 GBP
Availability: InStock

Isohelix cheek swab DNA sample collection kit

Miniature Short-Haired Dachshund DNA Health Panel

Turnaround: approx. 2 weeks

£149.00 - £149.00

£149.00

£149.00 - £149.00

£149.00

Component tests

5 component tests

Progressive Retinal Atrophy (PRA-cord1/rcd4) DNA TestPRA-cord1/rcd4RPGRIP1

Progressive Retinal Atrophy (PRA) is a group of eye disorders which cause progressive degeneration of the retina through thinning and decreased blood flow. Depending on the variant the rod (dim light) or cone (bright light) photoreceptor cells of the eye may also be affected and age of onset and speed of progression can vary. Affected dogs typically have initial vision loss in low light, then peripheral vision loss, and eventually total blindness.
Inheritance: autosomal recessive
View this test on its own
Mucopolysaccharidosis Type IIIA (MPSIIIA) DNA TestMPSIIIASGSH

not available as single test, only on mini dash
Inheritance: autosomal recessive
View this test on its own
Neuronal Ceroid Lipofuscinosis 1 (NCL1) DNA TestNCL1PPT1 (NCL1)

none, not available as single test
Inheritance: autosomal recessive
View this test on its own
Neuronal Ceroid Lipofuscinosis 2 (NCL2) DNA TestNCL2TPP1 (NCL2)

none, not available as single test
Inheritance: autosomal recessive
View this test on its own
Osteogenesis Imperfecta (OI) DNA TestOISERPINH1

None, not available as a single test. NOTE: this is the mini dach version only, not other breeds
Inheritance: autosomal recessive
View this test on its own

The Miniature Short-Haired Dachshund DNA Health Panel screens for inherited disorders relevant to the breed, combining them into a single test at one price. One cheek swab covers all tests.

approx. 2 weeks Typical turnaround

5 Conditions screened

Simple cheek swab At-home sampling

UK laboratory Tested in-house

Progressive Retinal Atrophy -cord1/rcd4PRA-cord1/rcd4

Progressive Retinal Atrophy (PRA) is a group of eye disorders which cause progressive degeneration of the retina through thinning and decreased blood flow. Depending on the variant the rod (dim light) or cone (bright light) photoreceptor cells of the eye may also be affected and age of onset and speed of progression can vary. Affected dogs typically have initial vision loss in low light, then peripheral vision loss, and eventually total blindness.

How it's inherited

Recessive

Mucopolysaccharidosis Type IIIAMPSIIIA

not available as single test, only on mini dash

How it's inherited

Recessive

What your result means

Clear (N/N): no copies; not expected to develop MPSIIIA, nor pass it on.

Carrier (N/MPSIIIA): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.

Affected (MPSIIIA/MPSIIIA): two copies; expected to develop MPSIIIA. Discuss with your vet.

Neuronal Ceroid Lipofuscinosis 1NCL1

none, not available as single test

How it's inherited

Recessive

What your result means

Clear (N/N): no copies; not expected to develop NCL1, nor pass it on.

Carrier (N/NCL): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.

Affected (NCL/NCL): two copies; expected to develop NCL1. Discuss with your vet.

Neuronal Ceroid Lipofuscinosis 2NCL2

none, not available as single test

How it's inherited

Recessive

What your result means

Clear (N/N): no copies; not expected to develop NCL2, nor pass it on.

Carrier (N/NCL): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.

Affected (NCL/NCL): two copies; expected to develop NCL2. Discuss with your vet.

Osteogenesis ImperfectaOI

None, not available as a single test. NOTE: this is the mini dach version only, not other breeds

How it's inherited

Recessive

What your result means

Clear (N/N): no copies; not expected to develop OI, nor pass it on.

Carrier (N/OI): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.

Affected (OI/OI): two copies; expected to develop OI. Discuss with your vet.

Progressive Retinal Atrophy -cord1/rcd4PRA-cord1/rcd4

Gene: RPGRIP1
Inheritance: autosomal recessive
OMIA: OMIA001432 9615

Molecular mechanism

Progressive retinal atrophy (PRA) encompasses a genetically heterogeneous group of inherited retinal degenerative disorders characterised by the progressive loss of photoreceptor function, ultimately resulting in irreversible blindness. Although the clinical presentation is broadly similar across affected breeds, with initial degeneration of rod photoreceptors causing night blindness followed by cone degeneration and progressive loss of daylight vision, numerous genetically distinct forms of PRA have been identified (Miyadera et al., 2012; Mowat et al., 2024). Advances in canine molecular genetics have demonstrated that variants in multiple genes involved in photoreceptor development, maintenance and function can produce clinically similar retinal phenotypes. Consequently, breed-specific genetic testing is required, as different forms of PRA are associated with different causative variants.

PRA-RPGRIP1 (CORD1/crd4): Progressive retinal atrophy associated with RPGRIP1 is inherited as an autosomal recessive condition. In Miniature Long-Haired Dachshunds, Mellersh et al., (2006) identified a 44-bp insertion in the RPGRIP1 gene that results in a frameshift and premature protein truncation. Although additional genetic factors may influence disease severity, this variant remains the primary genetic marker used for testing (Miyadera et al., 2012).

The expanding number of recognised PRA-associated variants highlights the marked genetic heterogeneity underlying inherited retinal degeneration in dogs. While many of these variants are breed-specific, others are shared across multiple breeds through historical founder events. Genetic testing enables accurate identification of affected and carrier dogs, supporting informed breeding decisions aimed at reducing disease prevalence while preserving genetic diversity. As additional causative variants continue to be identified, molecular testing will remain an important tool for improving the diagnosis, management and long-term control of progressive retinal atrophy in canine populations (Lewis \u0026amp; Mellersh, 2019; Mowat et al., 2024).

Mucopolysaccharidosis Type IIIAMPSIIIA

Gene: SGSH
Variant: a 3-bp deletion, 737-739delCCA
Inheritance: autosomal recessive
OMIA: OMIA001309 9615

Molecular mechanism

Mucopolysaccharidosis IIIA (MPSIIIA) is an inherited lysosomal storage disease caused by defective metabolism of glycosaminoglycans, which accumulate within lysosomes in affected tissues. The condition is inherited as an autosomal recessive trait and has been reported in Wire-Haired Dachshunds and New Zealand Huntaway dogs.
In Wire-Haired Dachshunds, Aronovich et al., (2000) identified a 3-bp deletion (737-739delCCA) resulting in the loss of threonine at position 246.
The accumulation of glycosaminoglycans within lysosomes results in progressive dysfunction of affected tissues. Clinical signs reported in dogs with mucopolysaccharidosis include growth retardation, joint abnormalities, progressive lameness and visual impairment associated with corneal clouding (Shull et al., 1982).

References

Aronovich, E.L., Carmichael, K.P., Morizono, H., Koutlas, I.G., Deanching, M., Hoganson, G., Fischer, A., Whitley, C.B. : Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds Genomics 68:80-84, 2000. Pubmed reference: 10950929. DOI: 10.1006/geno.2000.6275.

Shull, R.M., Munger, R.J., Spellacy, E., Hall, C.W., Constantopoulos, G., Neufeld, E.F. : Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I. Am J Pathol 109:244-8, 1982. Pubmed reference: 6215865.

Neuronal Ceroid Lipofuscinosis 1NCL1

Gene: PPT1 (NCL1)
Variant: c.736-737insC (NCL1)
Inheritance: autosomal recessive
OMIA: OMIA001504 9615

Molecular mechanism

Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is a group of inherited lysosomal storage disorders characterised by progressive neurodegeneration caused by the accumulation of autofluorescent storage material within nerve cells.
Affected dogs develop progressive neurological disease beginning in early life. Clinical signs include vision loss, behavioural changes, tremors, ataxia, weakness, cognitive decline, and seizures, with the disease progressing rapidly and ultimately proving fatal (Awano et al., 2006; Sanders et al., 2010; Sanders et al., 2011).
The NCL1 variant, identified in Standard Dachshunds, was first described by Sanders et al., (2010). It is caused by a single nucleotide insertion, PPT1:c.736_737insC, in exon 8 of the PPT1 gene on canine chromosome 15 (CFA15). The frameshift introduces a premature stop codon, producing a truncated protein with severely reduced enzyme activity.
The NCL2 variant, identified in Miniature Long-Haired Dachshunds, was first reported by Awano et al., (2006). It is caused by a single nucleotide deletion, TPP1:c.325delC, in exon 4 of the TPP1 gene on canine chromosome 21 (CFA21). This frameshift mutation results in a premature stop codon and loss of normal tripeptidyl peptidase 1 enzyme function.
Both forms are inherited as autosomal recessive conditions. Genetic testing can identify clear, carrier, and affected dogs, allowing breeders to avoid producing affected puppies.

References

Neuronal Ceroid Lipofuscinosis 2NCL2

Gene: TPP1 (NCL2)
Variant: c.325delC (NCL2)
Inheritance: autosomal recessive
OMIA: OMIA001472 9615

Molecular mechanism

Osteogenesis ImperfectaOI

Gene: SERPINH1
Variant: SERPINH1:c.977T>C (p.Leu326Pro)
Inheritance: autosomal recessive
OMIA: OMIA001400 9615

Molecular mechanism

Osteogenesis Imperfecta (OI), also known as brittle bone disease, is an inherited connective tissue disorder characterised by fragile bones that fracture easily due to defects in collagen formation. Multiple genetic forms of the disease have been identified in dogs. The variant offered by our test is found in Dachshunds and is inherited as an autosomal recessive trait.
Affected dogs typically exhibit reduced bone density, spontaneous fractures, bone deformities, joint laxity, pain, and brittle teeth. Additional clinical signs may include blue-grey sclera, progressive hearing loss, dwarfism, and, in severe cases, stillbirths (Drögemüller et al., 2009; Lindert et al., 2015; Seeliger et al., 2003).
The causative variant was first identified by Drögemüller et al., (2009) following homozygosity mapping to canine chromosome 21 (CFA21) and is a missense variant, SERPINH1:c.977T\u0026gt;C (p.Leu326Pro), affecting the SERPINH1 gene, which encodes a collagen-specific molecular chaperone required for normal collagen assembly.
Genetic testing can identify clear, carrier, and affected dogs, enabling informed breeding decisions to prevent affected puppies while maintaining genetic diversity within the breed. Carrier frequencies have been reported at approximately 13% across European Dachshund populations, with higher frequencies observed in some wire-haired lines (Schütz et al., 2012; Eckardt et al., 2013).