Table 1.

Common commercialized DNA tests for domestic cats.

Disease/trait (alleles)	MOIb	Phenotype	Breeds	Gene	Mutationd
Agouti (A, a) [76]	AR	Banded fur to solid	All breeds	ASIP	c.122_123delCA
Amber (E, e) [77]	AR	Brown color variant	Norwegian forest	MC1R	c.250G > A
Brown (B, b, bl) [78,79]	AR	Brown, light brown color variants	All breeds	TYRP1	b = c.8C > G, bl = c.298C > T
Color (C, cb, cs, c) [79–81]	AR	Burmese, Siamese color pattern, full albino	All breeds	TYR	Cb = c.715G > T, Cs = c.940G > A, c = c.975delC
Dilution (D, d) [40]	AR	Black to grey/blue, Orange to cream	All breeds	MLPH	c.83delT
Gloves (G, g) [48]	AR	White feet	Birman	KIT	(Submitted)
Hairless (Hr, hr) [52]	AR	Atrichia	Sphynx	KRT71	c.816 + 1G > A
Long fur (L, l) [49,50]	AR	Long fur	All breedsc	FGF5	c.356_367insT, c.406C > T, c.474delT, c.475A > C
Rexing (R, r)	AR	Curly hair coat	Cornish Rex	PYP2R5	(Submitted)
Rexing (Re, re) [52]	AR	Curly hair coat	Devon Rex	KRT71	c.1108-4_1184del, c.1184_1185ins AGTTGGAG, c.1196insT
AB blood type (A, b) [39]	AR	Determines type B	All breeds	CMAH	c.1del-53_70, c.139G > A
Gangliosidosis 1 [82]	AR	Lipid storage disorder	Korat, Siamese	GBL1	c.1457G > C
Gangliosidosis 2 [83]	AR	Lipid storage disorder	Burmese	HEXB	c.1356del-1_8, c.1356_1362delGTTCTCA
Gangliosidosis 2 [23]	AR	Lipid storage disorder	Korat	HEXB	c.39delC
Glycogen storage dis. IV [92]	AR	Glycogen storage disorder	Norwegian forest	GBE1	IVS11 + 1552_IVS12-1339 del6.2 kb ins334 bp
Hypertrophic cardiomyopathy [34]	AD	Cardiac disease	Maine Coon	MYBPC	c.93G > C
Hypertrophic cardiomyopathy [85]	AD	Cardiac disease	Ragdoll	MYBPC	c.2460C > T
Hypokalemia	AR	Potassium deficiency	Burmese	WNK4	(Submitted)
Progressive retinal atropy [86]	AR	Late onset blindness	Abyssinian	CEP290	IVS50 + 9T > G
Progressive retinal atropy [87]	AD	Early onset blindness	Abyssinian	CRX	c.546delC
Polycystic Kidney disease [32]	AD	Kidney cysts	Persian	PKD1	c.10063C > A
Pyruvate kinase def.a	AR	Hemopathy	Several	PKLR	c.693 + 304G > A
Spinal muscular atrophy [88]	AR	Muscular atrophy	Maine Coon	LIX1-LNPEP	Gene deletion

^aUnpublished test, presented only as abstract, paper submitted.

^bMode of inheritance of the non-wildtype variant.

^cLong fur variants are more or less common depending on the breed.

^dNot all transcripts for a given gene may have been discovered or well documented in the cat, mutations presented as interpreted from original publication.