CombiBreed Health Kat UPDATED

Bestel het onderzoek

99,95

82,60 (excl. 21% BTW)

Omschrijving

Doeldiersoort en rassen

Kat

Elk ras

Staalname

Wisser genetisch (2x)
EDTA volbloed

Doorlooptijd

21 dagen

Rubriek

Genetische profielen

Code

K5500

Analyses

1 Adrenal hyperplasia

CYP11B1 G>A

2 Alpha-Mannosidosis

Alpha-Mannosidosis

3 ALPS

FASLG c.413_414insA

4 Cystinuria type A

SLC3A1 c.1342C>T

5 Cystinuria type B

6 Cystinuria type B variant 1

SLC7A9 c.706G>A

7 Cystinuria type B variant 2

SLC7A9 c.881T>A

8 Cystinuria type B variant 3

SLC7A9 c.1175C>T

9 Dihydropyrimidinase deficiency

DPYS c.1303G>A

10 Ehlers-Danlos Syndrome

COL5A1 c.3420delG

11 Factor XI deficiency

F11 c.1546G>A

12 Frontonasal dysplasia

ALX1 c.496del

12-1 Gangliosidosis GM1

c.1448G>C

13 Gangliosidosis GM2A type II

GM2A delGGTC

14 Gangliosidosis GM2 type II - 1

HEXB delC

15 Gangliosidosis GM2 type II - 2

HEXB c.667C>T

16 Gangliosidosis GM2 type II - 3

HEXB c.1467_91inv25

17 Gangliosidosis GM2 type II - 4

HEXB c.1244_1250del

18 Glycogen storage disease IV

GBE1 2xIVS+

19 Haemophilia B 1

F9 c.383G>A

20 Haemophilia B 2

F9 c.1150C>T

20-1 Hair Shaft Dysplasia

20-2 Hair Shaft Dysplasia type 1

DSG4 c.76del

20-3 Hair Shaft Dysplasia type 2

DSG4 c.1777del

21 Hyperlipoproteinaemia

LPL c.1234G>A

21-1 Hypertrophic cardiomyopathy 1

MYBPC3 A31P

21-2 Hypertrophic cardiomyopathy 3

MYBPC3 R820W

22 Hypokalemic periodic paralysis

WNK4 2899

23 Hypotrichosis, short life

FOXN1 c.1030_3del

24 Leber congenital amaurosis,PRA

AIPL1 c.577C>T

25 Mucopolysaccharidosis I

IDUA 3bp del

26 Mucopolysaccharidosis VI

ARSB

27 Mucopolysaccharidosis VII

27-1 Mucopolysaccharidosis VII 1

GUSB c.1074G>A

27-2 Mucopolysaccharidosis VII 2

GUSB c.1423T>G

27-3 Mucopolysaccharidosis VII 3

GUSB c.1426C>T

28 Congenital Myasthenic Syndrome

COLQ c.1190G>A

29 Myotonia congenita

30 Myotonia congenita variant 1

CLCN1 c.1930+1G>T

31 Myotonia congenita variant 2

CLCN1 8bp del

32 Myotonia congenita variant 3

CLCN1 c.991G>C

33 Multidrug resistance 1

ABCB1 c.1930_1del

34 Niemann-Pick Syndroom C1 - 1

NPC1 c.2864G>C

34-1 Niemann-Pick Syndrome C1 - 2

NPC1 c.1322A>C

35 Oculocutaneous albinism

TYR

35-1 Oculocutaneous albinism c

TYR c.939del

36 Oculocutaneous albinism c2

TYR c.1204C>T

37 Osteochondrodysplasia

TRPV4 c.1024G>T

38 Polycystic kidney disease 1

PKD1 c.9882C>A

39 Polycystic kidney disease 2

PKD2 c.2211del

LMBR1 T>C

LMBR1 C>G

LMBR1 T>A

44 Primary congenital glaucoma

LTBP2 c.1449_1452dup

44-1 Porphyria 1

HMBS c.189dupT

44-2 Porphyria 3

HMBS c.445C>T

44-3 Porphyria 4

HMBS c.250G>A

44-4 Porphyria 5

HMBS c.826G>A

44-5 Porphyria 6

HMBS delACAG

45 Primary hyperoxaluria type II

GRHPR G>A

45-1 Pyruvate kinase deficiency

PKLR c.707-53G>A

46 rdAc PRA

CEP290 c.7584+9T>G

47 Rod-cone dysplasia

CRX 546

48 PRA Bengaal

KIF3B c.1000G>A

49 Spinal muscular atrophy

LIX1 140kbdel

50 Vit D-deficiency rickets I

CYP27B1 c.637G>T

51 X-linked Myotubular Myopathy

MTM1 c.455C>T

52 Bloedgroep b allel

CMAH 139/-53

53 Bloedgroep Ragdoll

54 Bloedgroep b allel

CMAH c.1322del

54-1 Bloedgroep aAB allel

CMAH c.364C>T

55 Vachtkleur A-Locus (Agouti)

ASIP

56 Vachtkleur A-Locus (Charcoal)

ASIP

57 Vachtkleur B-Locus

TYRP1

58 Vachtkleur C-locus Colourpoint

TYR

59 Vachtkleur D-Locus (Dilutie)

60 Vachtkleur E-locus (Amber)

MC1R

60-1 Vachtkleur E-locus (Russet)

61 Vachtkleur G-Locus

KIT c.1035_6delinsCA

62 Vachtkleur Gold

63 Vachtkleur Gold (Copper)

CORIN c.2425C>T

64 Vachtkleur Gold (Sunshine)

CORIN c.2383C>T

65 Vachtkleur Gold (Extreme)

CORIN c.839G>A

65-1 Vachtpatroon Tabby

66 Haarlengte Kat

66-1 Haarlengte Ragdoll

FGF5 c.356_7insT

66-2 Haarlengte Noorse boskat

FGF5 c.406C>T

66-3 Haarlengte Ragdoll/M. Coone

FGF5 c.474del

66-4 Haarlengte Maine Coon

FGF c.474del

66-5 Haarlengte alle rassen

FGF5 c.475A>C

66-6 Gekrulde vacht Cornish Rex

LPAR6

66-7 Vacht Devon Rex en Sphynx

KRT71

67 Gekrulde vacht Selkirk Rex

KRT71 c.445-1G>C

CombiBreed Health Kat UPDATED