DNA Tests Available
Disorder/Trait | Test Code | Inheritance | Gene | Molecular Description |
PARENTAGE | ||||
|
||||
HEALTH | ||||
Hypertrophic Cardiomyopathy – Ragdoll10 | HCM-RAG | Dominant | MYBPC3 | c.2460 C>T | 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_3 | Recessive | GUSB | c.1424 C>T |
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 |
Spinal Muscular Atrophy - Maine Coon 25 | SMA | Recessive | LIX1 | 140-kb deletion |
*See full test description for more information on inheritance
References:
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Fyfe JC, Menotti-Raymond M, David VA, Brichta L, Schäffer AA, Agarwala R, Murphy WJ, Wedemeyer WJ, Gregory BL, Buzzell BG, Drummond MC, Wirth B, O’Brien SJ. An ~140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival. Genome Research 16:1084-1090, 2006.