Name: Maltese DNA Health Panel
Brand: The Pet Genetics Lab
Price: 74.25 GBP
Availability: InStock

Maltese DNA Health Panel

Turnaround: approx. 2 weeks

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£99.00

£99.00 - £99.00

£99.00

£74.25

£74.25 - £74.25

£74.25

Tests included in the panel:

Hyperuricosuria (HUU) DNA TestHUUSLC2A9

Hyperuricosuria (HUU) is caused by a variant in the SLC2A9 gene, which affects how the body processes and removes uric acid. Affected dogs are at increased risk of developing urinary stones, which can cause signs such as blood in the urine, frequent or difficult urination, and in severe cases, urinary blockage. HUU is inherited as an autosomal recessive condition, meaning a dog must inherit two copies of the variant to be genetically affected.
Inheritance: autosomal recessive
View this test on its own
Macrothrombocytopaenia (MTCP) DNA TestMTCPTUBB1

Macrothrombocytopaenia (MTCP) is a condition which causes a low blood platelet number but increased platelet size, with these two factors often resulting in an overall normal platelet function. It is important to inform your vet of this condition so they are not concerned by a low platelet count on blood tests.
An autosomal recessive condition caused by a mutation in the TUBB1 gene.

Note: this is the King Charles Cavalier Spaniel variant only.
Inheritance: autosomal recessive
View this test on its own

The Maltese 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

2 Conditions screened

Simple cheek swab At-home sampling

UK laboratory Tested in-house

HyperuricosuriaHUU

Hyperuricosuria (HUU) is caused by a variant in the SLC2A9 gene, which affects how the body processes and removes uric acid. Affected dogs are at increased risk of developing urinary stones, which can cause signs such as blood in the urine, frequent or difficult urination, and in severe cases, urinary blockage. HUU is inherited as an autosomal recessive condition, meaning a dog must inherit two copies of the variant to be genetically affected.

How it's inherited

Recessive

What your result means

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

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

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

MacrothrombocytopaeniaMTCP

Macrothrombocytopaenia (MTCP) is a condition which causes a low blood platelet number but increased platelet size, with these two factors often resulting in an overall normal platelet function. It is important to inform your vet of this condition so they are not concerned by a low platelet count on blood tests.
An autosomal recessive condition caused by a mutation in the TUBB1 gene.

Note: this is the King Charles Cavalier Spaniel variant only.

How it's inherited

Recessive

What your result means

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

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

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

HyperuricosuriaHUU

Gene: SLC2A9
Variant: c.616G>T; p.Cys188Phe
Inheritance: autosomal recessive
OMIA: OMIA000256 9615

Molecular mechanism

Hyperuricosuria (HUU)or Urolithiasis is an inherited metabolic disorder characterised by impaired uric acid transport, resulting in increased urinary excretion and blood concentrations of uric acid. Affected dogs are predisposed to the formation of ammonium urate uroliths within the urinary tract, although not all dogs carrying the causative variant will develop the disease (Bannasch et al., 2008). Clinical signs are associated with stone formation and may include haematuria, pollakiuria, dysuria and urethral obstruction, while severe obstruction can result in systemic illness including anorexia, vomiting, collapse and metabolic disturbances (Bartges et al., 1999; Bartges and Callens, 2015).
Hyperuricosuria is inherited as an autosomal recessive condition; however, the SLC2A9 variant represents a genetic risk factor for urate urolithiasis rather than a definitive predictor of clinical disease. Bannasch et al., (2008) identified a missense mutation (c.616G\u0026gt;T; p.Cys188Phe) in the SLC2A9 gene on canine chromosome 3 (CFA3) as the causative variant. The variant is fixed in Dalmatians, with all dogs reported to be homozygous, but has also been identified at lower frequencies in several other breeds, including Labrador Retrievers, Bulldogs, German Shepherd Dogs and Pomeranians (Bannasch et al., 2008; Karmi et al., 2010; Cosgrove et al., 2015).

References

Bannasch, D., Henthorn, PS. : Changing paradigms in diagnosis of inherited defects associated with urolithiasis. Vet Clin North Am Small Anim Pract 39:111-25, 2009. Pubmed reference: 19038654. DOI: 10.1016/j.cvsm.2008.09.006.

Bannasch, D., Safra, N., Young, A., Karmi, N., Schaible, RS., Ling, GV. : Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genet 4:e1000246, 2008. Pubmed reference: 18989453. DOI: 10.1371/journal.pgen.1000246.

Bartges, J.W., Callens, A.J. : Urolithiasis. Vet Clin North Am Small Anim Pract 45:747-68, 2015. Pubmed reference: 26002797. DOI: 10.1016/j.cvsm.2015.03.001.

Bartges, J.W., Osborne, C.A., Lulich, J.P., Kruger, J.M., Sanderson, S.L., Koehler, L.A., Ulrich, L.K. : Canine urate urolithiasis. Etiopathogenesis, diagnosis, and management. Vet Clin North Am Small Anim Pract 29:161-91, xii-xiii, 1999. Pubmed reference: 10028157. DOI: 10.1016/s0195-5616(99)50010-7.

Cosgrove, L., Hammond, G., Mclauchlan, G. : Primary portal vein hypoplasia and SLC2A9 mutation associated with urate urolithiasis in a Spanish water dog. Can Vet J 56:1153-7, 2015. Pubmed reference: 26538670.

Karmi, N., Safra, N., Young, A., Bannasch, DL. : Validation of a urine test and characterization of the putative genetic mutation for hyperuricosuria in Bulldogs and Black Russian Terriers. Am J Vet Res 71:909-14, 2010. Pubmed reference: 20673090. DOI: 10.2460/ajvr.71.8.909.

MacrothrombocytopaeniaMTCP

Gene: TUBB1
Variant: c.745 G>A
Inheritance: autosomal recessive
OMIA: OMIA002434 9615

Molecular mechanism

Thrombocytopenia, TUBB1-related is an inherited platelet disorder characterised by macrothrombocytopenia, in which affected dogs have reduced platelet numbers and enlarged platelets. The condition is inherited as an autosomal recessive trait and has been reported in Cavalier King Charles Spaniels, Norfolk Terriers and Cairn Terriers (Pedersen et al., 2002; Gelain et al., 2014).
In Cavalier King Charles Spaniels, Davis et al., (2008) identified a missense variant (c.745G\u0026gt;A; p.D249N) in the TUBB1 gene, encoding beta-1 tubulin, which correlated with the observed macrothrombocytopenia. A different TUBB1 missense variant was subsequently identified as the likely cause of a similar disorder in Norfolk and Cairn Terriers (Gelain et al., 2014).
The condition is generally asymptomatic, with the thrombocytopenia identified through blood analysis rather than clinical signs (Pedersen et al., 2002). Genetic testing can identify dogs carrying the known breed-associated variants, supporting informed breeding decisions. Note: only the King Charles Cavalier Spaniel TUBB1 variant is offered on this test, not the Norfolk/Cairn Terrier version.

References

Davis, B., Toivio-Kinnucan, M., Schuller, S., Boudreaux, MK. : Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels. J Vet Intern Med 22:540-5, 2008. Pubmed reference: 18466252. DOI: 10.1111/j.1939-1676.2008.0085.x.

Gelain, M.E., Bertazzolo, W., Tutino, G., Pogliani, E., Cian, F., Boudreaux, M.K. : A novel point mutation in the β1-tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers. Vet Clin Pathol 43:317-21, 2014. Pubmed reference: 25060661. DOI: 10.1111/vcp.12168.

Pedersen, H.D., Haggstrom, J., Olsen, L.H., Christensen, K., Selin, A., Burmeister, M.L., Larsen, H. : Idiopathic asymptomatic thrombocytopenia in Cavalier King Charles Spaniels is an autosomal recessive trait J Vet Intern Med 16:169-73, 2002. Pubmed reference: 11899033. DOI: 10.1892/0891-6640(2002)016\u0026lt;0169:iatick\u0026gt;2.3.co;2.