CombiBreed Erfelijke Ziekten Kat
Bestel het onderzoek
99,95
82,60 (excl. 21% BTW)
Doeldiersoort en rassen
Kat
Elk ras
Staalname
- Wisser genetisch
- EDTA volbloed
Doorlooptijd
14 dagen
Rubriek
Genetische profielen
Code
K5865
Analyses
1 Adrenal hyperplasia
CYP11B1 G>A
2 Dihydropyrimidinase deficiency
DPYS c.1303G>A
3 Gangliosidosis GM2A type II
GM2A delGGTC
4 Gangliosidosis GM2 type II - 1
HEXB delC
5 Gangliosidosis GM2 type II - 2
HEXB c.667C>T
6 Haemophilia B 1
F9 c.383G>A
7 Haemophilia B 2
F9 c.1150C>T
8 Hyperlipoproteinaemia
LPL c.1234G>A
8-1 Hypertrophic cardiomyopathy 1
MYBPC3 A31P
8-2 Hypertrophic cardiomyopathy 3
MYBPC3 R820W
9 Hypokalemic periodic paralysis
WNK4 2899
10 Mucopolysaccharidosis I
IDUA 3bp del
11 Mucopolysaccharidosis VI
ARSB c.1427T>C
11-1 Mucopolysaccharidosis VII 1
GUSB c.1074G>A
12 Congenital Myasthenic Syndrome
COLQ c.1190G>A
13 Niemann-Pick Syndroom C1 - 1
NPC1 c.2864G>C
13-1 Niemann-Pick Syndrome C1 - 2
NPC1 c.1322A>C
14 Polycystic kidney disease 1
PKD1 c.9882C>A
15 Primary hyperoxaluria type II
GRHPR G>A
15-1 Pyruvate kinase deficiency
PKLR c.707-53G>A
16 rdAc PRA
CEP290 c.7584+9T>G
17 Vit D-deficiency rickets I
CYP27B1 c.637G>T
18 Bloedgroep b allel
CMAH 139/-53