CombiBreed Health Kat UPDATED

CombiBreed Health Kat UPDATED

Bestel het onderzoek

99,95

82,60 (excl. 21% BTW)

Omschrijving

Doeldiersoort en rassen

Kat

Elk ras

Staalname

Wisser genetisch
EDTA volbloed

Doorlooptijd

21 dagen

Rubriek

Genetische profielen

Code

K5500

Analyses

1 Adrenal hyperplasia

CYP11B1 G>A

2 Alpha-Mannosidosis

Alpha-Mannosidosis

FASLG c.413_414insA

4 Cystinuria type B

5 Cystinuria type B variant 1

SLC7A9 c.706G>A

6 Cystinuria type B variant 2

SLC7A9 c.881T>A

7 Cystinuria type B variant 3

SLC7A9 c.1175C>T

8 Dihydropyrimidinase deficiency

DPYS c.1303G>A

9 Factor XI deficiency

F11 c.1546G>A

10 Factor XII deficiency

F12 c.1631G>C

11 Frontonasal dysplasia

ALX1 c.496del

11-1 Gangliosidosis GM1

c.1448G>C

12 Gangliosidosis GM2A type II

GM2A delGGTC

13 Gangliosidosis GM2 type II - 1

HEXB delC

14 Gangliosidosis GM2 type II - 2

HEXB c.667C>T

15 Gangliosidosis GM2 type II - 3

HEXB c.1467_91inv25

16 Gangliosidosis GM2 type II - 4

HEXB c.1244_1250del

17 Glycogen storage disease IV

GBE1 2xIVS+

18 Haemophilia B 1

F9 c.383G>A

19 Haemophilia B 2

F9 c.1150C>T

19-1 Hypertrophic cardiomyopathy 1

MYBPC3 A31P

19-2 Hypertrophic cardiomyopathy 3

MYBPC3 R820W

20 Hypokalemic periodic paralysis

WNK4 2899

21 Hypotrichosis, short life

FOXN1 c.1030_3del

22 Mucopolysaccharidosis I

IDUA 3bp del

23 Mucopolysaccharidosis VI

24 Mucopolysaccharidosis VI 1

ARSB c.1427T>C

24-1 Mucopolysaccharidosis VI 2

ARSB c.1558G>A

25 Mucopolysaccharidosis VII

25-1 Mucopolysaccharidosis VII 1

GUSB c.1074G>A

25-2 Mucopolysaccharidosis VII 2

GUSB c.1423T>G

25-3 Mucopolysaccharidosis VII 3

GUSB c.1426C>T

26 Congenital Myasthenic Syndrome

COLQ c.1190G>A

27 Myotonia congenita

28 Myotonia congenita variant 1

CLCN1 c.1930+1G>T

29 Myotonia congenita variant 2

CLCN1 8bp del

30 Myotonia congenita variant 3

CLCN1 c.991G>C

31 Multidrug resistance 1

ABCB1 c.1930_1del

32 Niemann-Pick Syndroom C1 - 1

NPC1 c.2864G>C

32-1 Niemann-Pick Syndrome C1 - 2

NPC1 c.1322A>C

33 Oculocutaneous albinism

TYR

33-1 Oculocutaneous albinism c

TYR c.939del

34 Oculocutaneous albinism c2

TYR c.1204C>T

35 Osteochondrodysplasia

TRPV4 c.1024G>T

36 Polycystic kidney disease 1

PKD1 c.9882C>A

37 Primary hyperoxaluria type II

GRHPR G>A

37-1 Pyruvate kinase deficiency

PKLR c.707-53G>A

CEP290 c.7584+9T>G

39 Rod-cone dysplasia

CRX 546

KIF3B c.1000G>A

41 Spinal muscular atrophy

LIX1 140kbdel

42 Vit D-deficiency rickets I

CYP27B1 c.637G>T

43 Bloedgroep b allel

CMAH 139/-53

44 Bloedgroep Ragdoll

45 Bloedgroep b allel

CMAH c.1322del

45-1 Bloedgroep aAB allel

CMAH c.364C>T

46 Vachtkleur A-Locus (Agouti)

ASIP

47 Vachtkleur A-Locus (Charcoal)

ASIP

48 Vachtkleur B-Locus

TYRP1

49 Vachtkleur C-locus Colourpoint

TYR

50 Vachtkleur D-Locus (Dilutie)

51 Vachtkleur E-locus (Amber)

MC1R

51-1 Vachtkleur E-locus (Russet)

52 Vachtkleur Gold

53 Vachtkleur Gold (Copper)

CORIN c.2425C>T

54 Vachtkleur Gold (Sunshine)

CORIN c.2383C>T

55 Vachtkleur Gold (Extreme)

CORIN c.839G>A

55-1 Vachtpatroon Tabby

56 Haarlengte Kat

56-1 Haarlengte Ragdoll

FGF5 c.356_7insT

56-2 Haarlengte Noorse boskat

FGF5 c.406C>T

56-3 Haarlengte Ragdoll/M. Coone

FGF5 c.474del

56-4 Haarlengte Maine Coon

FGF c.474del

56-5 Haarlengte alle rassen

FGF5 c.475A>C

56-6 Gekrulde vacht Cornish Rex

LPAR6

56-7 Vacht Devon Rex en Sphynx

KRT71

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