DNA Tests Available

Disorder/Trait Test Code Inheritance Gene Molecular Description
HEALTH
Hypertrophic Cardiomyopathy – Ragdoll10 HCM-RAG Dominant MYBPC3 c.2460 C>T
Mucopolysaccharidosis I 1 MPS1 Recessive IUDA c.1107_1109delCGA
Mucopolysaccharidosis VI – Severe Form 2 MPS6 Recessive ARSB c.1427 T>C
Mucopolysaccharidosis VII 4 MPS7_1 Recessive GUSB c.1051 G>A
Mucopolysaccharidosis VII 5 MPS7_2 Recessive GUSB c.1421 T>G
Progressive Retinal Atrophy – CEP290/rdAc 7 PRA_CEP290 Recessive CEP290 IVS50 + 9T>G
Progressive Retinal Atrophy – CRX/Rdy 8 PRA_CRX Dominant CRX c.546delC
Pyruvate Kinase Deficiency 6 PYKD Recessive PKLR G>A transition in intron 5
TRAITS
Agouti 17 AGOUTI Recessive ASIP c.122_123delCA
Dilute 18 DILUTE Recessive MLPH c.83delT
Chocolate (Brown) 19,20 CHOCOLATE * TYRP1 c.8 C>G
Cinnamon (Red) 19,20 CINNAMON * TYRP1 c.298C>T
Longhair – all breeds 23 LH_ALL Recessive FGF5 c.475 A>C
Longhair – Ragdoll, Maine Coon 23 LH_RAG_MC Recessive FGF5 c.474delT
Longhair – Norwegian Forest Cat 24 LH_NFC Recessive FGF5 c.406 C>T
Longhair – Ragdoll 24 LH_RAG Recessive FGF5 c.ins356T
ADD-ON OPTIONS
Polycystic Kidney Disease 15 PKD Dominant PKD1 c.10063 C>A
Blood Type BLD_AB * CMAH Exon 2 - 139G>A
Blood Type BLD_AB * CMAH c.1del-53_70
Hypertrophic Cardiomyopathy –
Maine Coon 11
HCM-MC Dominant
*incomplete penetrance*
MYBPC3 c.93 G>C
Albinism 22 ALBINO * TYR c.975delC
Points – Siamese 20,21 POINT1 * TYR c.940 G>A
Points – Burmese 20,21 POINT2 * TYR c.715 G>T

*See full test description for more information on inheritance

References:

  1. He, X.X., Li, C.M., Simonaro, C.M., Wan, Q., Haskins, M.E., Desnick, R.J., Schuchman, E.H.: Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Molecular Genetics and Metabolism 67:106-112, 1999. Pubmed reference 10356309
  2. Yogalingam, G., Litjens, T., Bielicki, J., Crawley, A.C., Muller, V., Anson, D.S., Hopwood, J.J.: Feline mucopolysaccharidosis type VI – characterization of recombinant n-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease. Journal of Biological Chemistry 271:27259-27265, 1996. Pubmed reference: 8910299
  3. Crawley, A.C., Yogalingam, G., Muller, V.J., Hopwood, J.J.: Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. Journal of Clinical Investigation 101:109-119, 1998. Pubmed reference: 9421472
  4. Fyfe, J.C., Kurzhals, R.L., Lassaline, M.E., Henthorn, P.S., Alur, P.R.K., Wang, P., Wolfe, J.H., Giger, U., Haskins, M.E., Patterson, D.F., Sun, H.C., Jain, S., Yuhki, N.: Molecular basis of feline beta-glucuronidase deficiency: An animal model of mucopolysaccharidosis VII. Genomics 58:121-128, 1999. Pubmed reference: 10366443
  5. Wang, P., Sorenson, J., Strickland, S., Mingus, C., Haskins, M.E., Giger, U.: Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene. J Vet Intern Med 29:1022-8, 2015. Pubmed reference: 26118695
  6. Grahn, R.A., Grahn, G.C., Penedo, M.C., Helps, C.R., Lyons, L.A.: Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. BMC Vet Res 8:207, 2012. Pubmed reference: 23110753
  7. Menotti-Raymond, M., David, V.A., Schäffer, A.A., Stephens, R., Wells D., Kumar-Singh, R., O’Brien, S.J., Narfström, K.: Mutation in CEP290 discovered for cat model of human retinal degeneration. J Hered 98:211-20, 2007. Pubmed reference 17507457
  8. Menotti-Raymond, M., Deckman, K.H., David, V.A., Myrkalo, J, O’Brien, S.J., Narfström, K.: Mutation discovered in a feline model of human congenital retinal blinding disease. Invest Opthalmol Vis Sci 51:2852-2859, 2010. Pubmed reference: 20053974
  9. Narfström, K., Menotti Raymond, M., Seeliger, M.: Characterization of feline hereditary retinal dystrophies using clinical, functional, structural and molecular genetic studies. Vet Opthalmol 14 Suppl 1:30-6, 2011. Pubmed reference 21923821
  10. Meurs, K.M., Norgard, M.M., Ederer, M.M., Hendrix, K.P., Kittleson, M.D.: A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy. Genomics 90:261-4, 2007. Pubmed reference: 17521870
  11. Meurs, K.M., Sanchez, X., David, R.M., Bowles, N.E., Towbin, J.A., Reiser, P.J., Kittleson, J.A., Munro, M.J., Dryburgh, K., Macdonald, K.A., Kittleson, M.D.: A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Hum Mol Genet 14:3587-93, 2005. Pubmed reference: 16236761
  12. Longeri, M., Ferrari, P., Knafelz, P., Mezzelani, A., Marabotti, A., Milanesi, L., Pertica, G., Polli, M., Brambilla, P.G., Kittleson, M., Lyons, L.A., Porciello, F.: Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy. J Vet Intern Med 27:275-85, 2013. Pubmed reference 23323744
  13. Wess, G., Schinner, C., Weber, K., Kűchenhoff, H., Hartmann, K.: Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats. J Vet Intern Med 24:527-32, 2010. Pubmed Reference 20412438
  14. Kittleson, M.D., Meurs, K., Munro, M.: Re: Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats. J Vet Intern Med 24:1242-3; author reply 1244, 2010. Pubmed reference 21054533
  15. Lyons, L.A., Biller, D.S., Erdman, C.A., Lipinski, M.J., Young, A.E., Roe, B.A., Qin, B., Grahn, R.A.: Feline polycystic kidney disease mutation identified in PKD1. J Am Soc Nephrol 15:2548-55, 2004. Pubmed reference 15466259
  16. Bighignoli, B., Niini, T., Grahn, R.A., Pedersen, N.C., Millon, L.V., Polli, M., Longeri, M., Lyons, L.A.: Cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH) mutations associated with the domestic cat AB blood group. BMC Genet 8:27, 2007. Pubmed reference: 17553163
  17. Eizirik, E., Yuhki, N., Johnson, W.E., Menotti-Raymond, M., Hannah, S.S., O’Brien, S.J.: Molecular genetics and evolution of melanism in the cat family Current Biology 13:448-53, 2003. Pubmed reference 12620197
  18. Ishida, Y., David, V.A., Eizirik, E., Schäffer, A.A., Neelam, B.A., Roelke, M.E., Hannah, S.S., O’brien, S.J., Menotti-Raymond, M.: A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat. Genomics 88:698-705, 2006. Pubmed reference 16860533
  19. Lyons, L.A., Foe, I.T., Rah, H.C., Grahn, R.A.: Chocolate coated cats: TYRP1 mutations for brown color in domestic cats. Mamm Genome 16:356-66, 2005. Pubmed reference 16104383
  20. Schmidt-Küntzel, A., Eizirik, E., O’Brien, S.J., Menotti-Raymond, M.: Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci. J Hered 96:289-301, 2005. Pubmed reference 15858157
  21. Lyons, L.A., Imes, D.L., Rah, H.C., Grahn, R.A.: Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus). Anim Genet 36:119-26, 2005. Pubmed reference: 15771720
  22. Imes, D.L., Geary, L.A., Grahn, R.A., Lyons, L.A.: Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation. Anim Genet 37:175-8, 2006. Pubmed reference: 16573534
  23. Drögenmüller, C., Rüfenacht, S., Wichert, B., Leeb, T.: Mutations within the FGF5 gene are associated with hair length in cats. Anim Genet 38:218-21, 2007. Pubmed reference: 17433015
  24. Kehler, J.S., David, V.A., Schäffer, A.A., Bajema, K., Eizirik, E., Ryugo, D.K., Hannah, S.S., O’Brien, S.J., Menotti-Raymond, M: Four independent mutations in the feline fibroblast growth factor 5 gene determine the long-haired phenotype in domestic cats. J Hered 98:555-66, 2007. Pubmed reference: 17767004