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

5-1 Cystinuria type B variant 1

SLC7A9 c.706G>A

5-2 Cystinuria type B variant 2

SLC7A9 c.881T>A

5-3 Cystinuria type B variant 3

SLC7A9 c.1175C>T

6 Dihydropyrimidinase deficiency

DPYS c.1303G>A

7 Ehlers-Danlos Syndrome 1

COL5A1 c.3420delG

8 Factor XI deficiency

F11 c.1546G>A

8-1 Factor XII deficiency 1

F12 c.1631G>C

8-2 Factor XII deficiency 2

F12 c.1631G>C

9 Frontonasal dysplasia

ALX1 c.496del

9-1 Gangliosidosis GM1

c.1448G>C

10 Gangliosidosis GM2A type II

GM2A delGGTC

11 Gangliosidosis GM2 type II - 1

HEXB delC

12 Gangliosidosis GM2 type II - 2

HEXB c.667C>T

13 Gangliosidosis GM2 type II - 3

HEXB c.1467_91inv25

14 Gangliosidosis GM2 type II - 4

HEXB c.1244_1250del

15 Glycogen storage disease IV

GBE1 2xIVS+

16 Haemophilia B 1

F9 c.383G>A

17 Haemophilia B 2

F9 c.1150C>T

17-1 Hair Shaft Dysplasia

17-2 Hair Shaft Dysplasia type 1

DSG4 c.76del

17-3 Hair Shaft Dysplasia type 2

DSG4 c.1777del

18 Hyperlipoproteinaemia

LPL c.1234G>A

19 Hypertrophic cardiomyopathy 1

MYBPC3 A31P

19-1 Hypertrophic cardiomyopathy 3

MYBPC3 R820W

20 Hypokalemic periodic paralysis

WNK4 2899

21 Hypotrichosis, short life

FOXN1 c.1030_3del

22 Leber congenital amaurosis,PRA

AIPL1 c.577C>T

23 Mucopolysaccharidosis I

IDUA 3bp del

24 Mucopolysaccharidosis VI

ARSB

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

27-1 Myotonia congenita variant 1

CLCN1 c.1930+1G>T

27-2 Myotonia congenita variant 2

CLCN1 8bp del

27-3 Myotonia congenita variant 3

CLCN1 c.991G>C

28 Multidrug resistance 1

ABCB1 c.1930_1del

29 Niemann-Pick Syndroom C1 - 1

NPC1 c.2864G>C

29-1 Niemann-Pick Syndrome C1 - 2

NPC1 c.1322A>C

30 Oculocutaneous albinism

TYR

30-1 Oculocutaneous albinism c

TYR c.939del

30-2 Oculocutaneous albinism c2

TYR c.1204C>T

31 Osteochondrodysplasia

TRPV4 c.1024G>T

32 Polycystic kidney disease 1

PKD1 c.9882C>A

33 Polycystic kidney disease 2

PKD2 c.2211del

34 Polydactyly

34-1 Polydactyly Hw

LMBR1 T>C

34-2 Polydactyly UK1

LMBR1 C>G

34-3 Polydactyly UK2

LMBR1 T>A

35 Primary congenital glaucoma

LTBP2 c.1449_1452dup

36 Acute Intermittent Porphyria

36-1 Porphyria 1

HMBS c.189dupT

36-2 Porphyria 3

HMBS c.445C>T

36-3 Porphyria 4

HMBS c.250G>A

36-4 Porphyria 5

HMBS c.826G>A

36-5 Porphyria 6

HMBS delACAG

37 Primary hyperoxaluria type II

GRHPR G>A

38 Pyruvate kinase deficiency

PKLR c.707-53G>A

39 rdAc PRA

CEP290 c.7584+9T>G

40 Rod-cone dysplasia

CRX 546

41 PRA Bengaal

KIF3B c.1000G>A

42 Spinal muscular atrophy

LIX1 140kbdel

43 Vit D-deficiency rickets I

CYP27B1 c.637G>T

44 X-linked Myotubular Myopathy

MTM1 c.455C>T

45 Blood Type AB

CMAH

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 G-Locus

KIT c.1035_6delinsCA

53 Vachtkleur Gold

53-1 Vachtkleur Gold (Copper)

CORIN c.2425C>T

53-2 Vachtkleur Gold (Sunshine)

CORIN c.2383C>T

53-3 Vachtkleur Gold (Extreme)

CORIN c.839G>A

53-4 Vachtpatroon Tabby

54 Vachtkleur Ticked Ti^A

DKK4 c.188G>A

55 Vachtkleur Ticked Ti^CK

DKK4 c.53C>T

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

57 Gekrulde vacht Selkirk Rex

KRT71 c.445-1G>C

CombiBreed Health Kat UPDATED