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CombiBreed Health Hond UPDATED

CombiBreed Health Hond UPDATED

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146,94
121,44 (excl. 21% BTW)

Doeldiersoort en rassen

Hond

Elk ras

Staalname

  • Wisser genetisch (2x)
  • EDTA volbloed

Doorlooptijd

30 dagen

Rubriek

Genetische profielen

Code

H3223

Analyses

4 Achromatopsia cd^AMAL

CNGB3 404k kb del

5 Achromatopsia cd^GSPT

CNGB3 c.784G>A

6 Acral mutilation syndrome

GDNF g.70875561C>T

7 Alexander disease

GFAP c.719G>A

8 alpha Fucosidosis

FUCA1 14bp del

9 alpha-Mannosidosis

MAN2BA c.311A>G

10 Amelogenesis imperfecta ENAM 1

ENAM c1991_5delTTTCC

13 ARDS

ANLN c.31C>T

14 Ataxia, HACE1

HACE1 c.1001del

15 Bardet-Biedl syndrome 2

BBS2 c.1222G>C

16 Benign juvenile epilepsy

LGI2 c.1552A>T

17 Beta-mannosidosis

MANBA c.560T>A

19 C3 deficiency

C3 c.2136delC

22 Centronuclear myopathy, HACD1

HACD1 c.203_4ins236

24 Cerebellar abiotrophy (NCCD)

SPTBN2 c.5855_62del

25 Cerebellar abiotrophy

VMP1 g.34218228C>A

25-1 Cerebellar ataxia (SDCA1)

KCNJ10 c.986T>C

25-2 Cerebellar ataxia (SDCA2)

ATP1B2 c.130_1ins

26 Cerebellar ataxia GRM1

GRM1 c.2331_2ins62bp

27 Cerebellar ataxia RAB24

RAB24 c.113A>C

28 Cerebellar ataxia, RALGAPA1

RALGAPA1 4761del

29 Cerebellar ataxia SEL1L

SEL1L c.1972T>C

31 Cereb. degeneration-myositis

SLC25A12 c.1337C>T

32 Cerebellar hypoplasia RELN

RELN c.2839delG

33 Cerebellar hypoplasia VLDLR

VLDLR c.1713delC

34 Chondrodysplasia

ITGA10 c.2083C>T

35 Intervertebral Disc Disease

FGF4 insMF040221

37 CNS atrophy, cerebellar ataxia

SELENOP c6582_*516dl

38 Collie eye anomaly

NHEJ1 c.588 del7.8kb

39 crd1-PRA

PDE6B c.2404-6del

40 crd2-PRA

IQCB1 c.952_53insC

41 crd4-PRA RPGRIP1-related

RPGRIP1 c.142_3ins

42 Cone-rod dystrophy NPHP4

NPHP4 80bp del

43 Cong. Stat. Night Blindness 1

RPE65 c.460_463del

46 Copper toxicosis, COMMD1 type

COMMD1 39.7kb del

47 Craniomandibular osteopathy 1

SLC37A2 c.1332C>T

48 Craniomandibular osteopathy 2

SLC37A2 c.1446+1G>A

49 Cyclic neutropenia

AP3B1 c.2401_2insA

50 CYP1A2 deficiency

CYP1A2 c.1117C>T

51 Cystinuria type I - A 1

SLC3A1 c.586C>T

52 Cystinuria type I - A 2

SLC3A1 c.350delG

53 Cystinuria type II - A

SLC3A1 6bp del

54 Cystinuria type II - B

SLC7A9 c.964G>A

55 DAMS 2

EHBP1L1 c.388C>T

56 Deafness, CDH23-related

CDH23 c.700C>T

57 Deafness, MYO7A-related

MYO7A c.3719G>A

58 Deafness, EPS8L2-related

EPS8L2 c.1033_44del

59 Deafness, LOXHD1-related

LOXHD1 c.5747G>C

60 Deafness, PTPRQ-related

PTPRQ c.9230_1insA

63 Dental Hypomineralization

FAM20C c.899C>T

70 Dry Eye Curly Coat Syndrome

FAM83H c.977delC

71 DSRA

MIA3 c.3822+3_+4del

72 Dwarfism, PRKG2 1

PRKG2 c.1634+1G>T

74 Ectodermal dysplasia

PKP1 c.202+1G>C

79 Elliptocytosis

SPTB c.6119C>T

81 Epilepsy, myoclonic

DIRAS1 c564_7delAGAC

83 Exercise induced myopathy

ACADVL c.1728C>A

84 Eye malformation

SIXG c.487C>T

86 Familal nephropathy 1

COL4A4 c.115A>T

87 Familal nephropathy 2

COL4A4 2806C>T

88 Fanconi syndrome

FAN1 317bp del

89 Fecundity

GDF9 c.229C>T

90 Fenobarbital resistentie

ABCB1 c.-6-180T>G

91 Gangliosidosis, GM1 1

GLB1 c.1649delC

92 Gangliosidosis, GM1 2

GLB1 c.179G>A

97 Glycogen storage disease Ia 2

G6PC c.634_5insN[76]

103 Haemophilia A 1

F8 c.98G>A

104 Haemophilia A 2

F8 c.4824_25ins221

105 Haemophilia A 3

F8 c.1700G>A

106 Haemophilia A 4

F8 c.1469C>G

107 Haemophilia A 5

F8 c.1786C>T

108 Haemophilia A 6

F8 c.2923_4del

109 Haemophilia A 7

F8 c.3206delA

110 Haemophilia B 1

F9 c.731G>A

111 Haemophilia B 2

F9 c.-73del

112 Haemophilia B 4

F9 c.548_553delinsT

113 Haemophilia B 5

F9 c.821_2insA

114 Hepatorenal fibrocystic dis.

INPP5E c.1572+5G>A

115 Juvenile cataract

FYCO1 c.2024delG

116 Hereditary cataract 1

HSF4 c.971delC

117 Hereditary cataract 2

HSF4 c.971_2insC

121 Hypocatalasia

CAT c.979G>A

122 Hypomyelination

FNIP2 c.1078del

123 Hypophosphatasia

ALPL c.1301T>G

124 Hyposegmentation granulocytes

LMBR1L c.191+1G>A

125 Hypothyroidism SLC5A5-related

SLC5A5 c.1172-1G>A

129 Hypotrichosis, recessive 1

SGK3 c.287delTTAG

130 Hypotrichosis, recessive 2

SGK3 c.137_8insT

131 Ichthyosis, ABHD5-related

ABHD5 c.1006_19del

132 Ichthyosis, ASPRV1-related

ASPRV1 c.1052T>C

133 Ichthyosis, DSP-related

DSP c.1821_3del

134 Ichthyosis, NIPAL4-related

NIPAL4 c.744delC

134-1 Ichthyosis, PNPLA1-related

PNPLA1 c1445_7delins

135 Ichthyosis, SLC27A4-related

SLC27A4 c.1250G>A

136 Ichthyosis, TGM1-related

TGM1 LINE-1 ins

139 Imerslund-Grasbeck Syndrome 3

CUBN c.8746+1G>A

140 Inflammatory myopathy

SLC25A12 c.1046T>C

141 Inflammatory pulmonary disease

AKNA c.2717delACAG

142 Immunodeficiency (MAC)

CARD9 c.493_5del

143 JEB, LAMA3-related 1

LAMA3 c.8615T>A

144 JEB, LAMB3-related

LAMB3 c.1174T>C

146 JLPP

RAB3GAP1 c.743delC

147-1 Verrucous keratinocytic nevi 1

NSDHL c.700G>A

147-2 Verrucous keratinocytic nevi 2

NSDHL c.718delGAACA

150 LAD I

ITGB2 c.107G>C

151 LAD III

FERMT3 c1349_ins12bp

152 Lagotto storage disease

ATG4D c.1288G>A

153 Laryngeal paralysis/pnp

CNTNAP1 c.2810G>A

154 Lens luxation (PLL)

ADAMTS17 c.1473+1G>A

155 Lethal Acrodermatitis

MKLN1 c.400+3A>C

159 Long QT Syndrome

KCNQ1 c.770C>A

160 Lundehund syndrome

P3H2 c.1849G>C

163 Macrothrombocytopenia 1

TUBB1 c.745 G>A

164 Macrothrombocytopenia 2

TUBB1 c.5G>A

165 Macular Corneal Dystrophy

CHST6 c.814C>A

167 May-Hegglin anomaly

MYH9 c.5521G>A

168 MCAD Deficiency

ACADM c.444_5delins

169 Methaemoglobinaemia 1

CYB5R3 c.580A>C

170 Methaemoglobinaemia 2

CYB5R3 c.214G>A

171 Microphtalmia, RBP

RBP4 c.282_4del

172 Mitoch. Fission Encephalopathy

MFF c.471_5delins

173 Mucopolysaccharidosis IIIa

SGSH 708-709insC

177 Multiple ocular Defect (MOD)

COL11A1 c.1775T>C

178 Multidrug resistance 1

ABCB1 c.295_8delAGAT

179 Multifocal retinopathy 1

BEST1 c.73C>T

180 Multifocal retinopathy 2

BEST1 c.482G>A

180-1 Multifocal retinopathy 3-2

BEST1 c.1466G>T

181 Muscular dystroglycanopathy

LARGE c.1363C>T

182 Muscular dystrophy, COL6A1

COL6A1 c.289G>T

183 Muscular dystrophy, COL6A3

COL6A3 c.6398del

184 Muscular dystrophy, DMD 1

DMD LINE-1 ins

186 Muscular dystrophy, DMD 3

DMD c.531-2A>G

188 Muscular dystrophy, DMD 5

DMD c.2841delT

189 Muscular dystrophy, DMD 5

DMD c.3371_3372insA

190 Muscular dystrophy, LAMA2

LAMA2 c.3285G>A

191 Muscular dystrophy, LGMDR3

SGCA c.G224G>A

192-1 Muscular dystrophy, Ullrich 1

COL6A3 c.6210+1G>A

192-2 Muscular dystrophy, Ullrich 2

COL6A3 c.4726C>T

193 Musladin-Lueke syndrome

ADAMTSL2 c.661C>T

194 Myasthenic syndrome, CHAT

CHAT exon6 G>A

196 Myasthenic syndrome, CHRNE 2

CHRNE c.633_4insC

197 Myasthenic syndrome, COLQ

COLQ c.1010T>C

198 Myeloencephalopathy, PNPLA8

PNPLA8 c.1169_70dup

200 Centronuclear myopathy

BIN1 c.786-2A>G

202 Myotonia congenita 2

CLCN1 c.2665insA

203 Myotonia congenita 3

CLCN1 c.2275A>T

204 Myotonia congenita 4

CLCN1 c.2423_30dup

205 Myotubular myopathy 1

MTM1 c.465C>A

206 Myotubular myopathy 2

MTM1 c.1151A>C

207 Myotubular myopathy 3

MTM1 c.1467C>T

208 Narcolepsy 1

HCRTR2 exon1 G>A

209 Narcolepsy 2

HCRTR2 SINE ins

210 Narcolepsy 3

HCRTR2 G>A

211 Nasal parakeratosis 2

SUV39H2 c.996+3_+6dl

212 NCL 1 - Teckel

PPT1 c.736-737insC

213 NCL 2

TPP1 c.325delC

214 NCL 4A

ARSG c.296G>A

215 NCL 5

CLN5 c.619C>T

216 NCL 5 GR

CLN5 c.935_6del

217 NCL 6

CLN6 c.829T>C

218 NCL6 - Schapendoes

CLN6 c.386T>C

219 NCL 7

MFSD8 c.846del

220 NCL 8 - 1

CLN8 c.491T>C

221 NCL 8 - 2

CLN8 c.585G>A

222 NCL8 - Dachsbracke

CLN8 c.-14679_...del

223 NCL 8 - Saluki

CLN8 c.349dupT

224 NCL 10

CTSD c.597G>A

225 NCL 12 - Australian Cattle Dog

ATP13A2 c.1118C>T

226 Necrotizing Myelopathy

IBA57 c.439C>T

228 Neonatal encephalopathy

ATF2 c.152T>G

229 Nephritis, X-linked

COL4A5 C>T

231 Neuroaxonal dystrophy PLA2G6

PLA2G6 c.1579G>A

232 Neuroaxonal dystrophy RNF170

RNF170 c.367delG

233 Neuroaxonal dystrophy TECPR2

TECPR2 c.4009C>T

234 Neuroaxonal dystrophy VPS11

VPS11 c.2504A>G

235 Nodular dermatofibrosis

FLCN c.764A>G

236 Obesity POMC-related

POMC 14bp del

237 Oculocutaneous albinism OCA2

OCA2 g.31715704A>C

238 Oculocutaneous albinism OCA4 1

SLC45A2 c.1287delC

239 Oculocutaneous albinism OCA4 2

SLC45A2 c.1478G>A

240 Oculoskeletal dysplasia 1-1

COL9A3 exon1 insG

241 Oculoskeletal dysplasia 1-2

COL9A3 c.700C>T

242 Osteochondrodysplasia

SLC13A1 130kb del

243 Osteochondromatosis

EXT2 c.924C>A

245 Osteogenesis imperfecta 2

SERPINH1 c.977C>T

247 Osteogenesis imperfecta 4

COL1A2 c.936+1G>A

248 P2RY12 bleeding disorder

P2RY12 c.516_8del

250 Paroxysmal dyskinesia, SOD1

SOD1 c.12delinsCAC

251 PED 1

PCK2 c.1658G>A

252 Persistent Mullerian Duct

AMHR2 c.262C>T

253 Pituitary dwarfism LHX3

LHX3 7bp del

254 Pituitary dwarfism POU1F1

POU1F1 c.605-3C>A

255 Polycystic kidney disease

PKD1 exon29 G>A

256 Polyneuropathy ARHGEF10

ARHGEF10 c1955_8+6d

257 Polyneuropathy GJA9

GJA9 c.1107_8delAG

258 Polyneuropathy NDRG1 1

NDRG1 c.1080-9del

259 Polyneuropathy NDRG1 2

NDRG1 c.293G>T

261 PRA BBS4-related

BBS4 c.58A>T

262 PRA CCDC66-related

CCDC66 1bp ins

263 PRA CNGA1-related

CNGA1 c.1752_5del

264 PRA IFT122-related

IFT122 c.3176G>A

265 PRA JPH2 related

JPH2 c.452A>C

266 PRA NECAP1-related

NECAP1 c.544G>A

267 PRA PDE6B-related

PDE6B c.2218-23del

268 PRA PRCD-related

PRCD c.5G>A

269 PRA RHO-related

RHO c.11C>G

270 PRA SAG-related

SAG c.1216T>C

271 PRA SLC4A3-related

SLC4A3 c.2601_2insC

272 PRA STK38L-related

STK38L SINE ins

273 PRA TTC8-related

TTC8 c.669delA

274 PRA Type 3 FAM161A-related

FAM161A SINE ins

275 PRA Type B1 HIVEP3-related

HIVEP3 g.1432293G>A

277 Prekallikrein deficiency

KLKB1 c.988T>A

279 Primary ciliary dyskinesia 3

STK36 c.2868-1G>A

280 Primary glaucoma ADAMTS10 1

ADAMTS10 c.1981G>A

281 Primary glaucoma ADAMTS10 2

ADAMTS10 c.1441G>A

282 Primary glaucoma ADAMTS17 1

ADAMTS17 delCGTGGT

283 Prim. Immunodeficiency Type 2

CARMIL2 c.871C>T

284 Primary hyperoxaluria

AGXT c.996G>A

290 Pyruvate kinase deficiency 5

PKLR c.1333_8dup

291 Retinal dysplasia

NDP c.653_654insC

292 Rod-cone dysplasia 1

PDE6B c.2421G>A

293 Rod-cone dysplasia 1a

PDE6B c.2448_9ins8bp

294 Rod-cone dysplasia 3

PDE6A c.1847del

295 Rod-cone dysplasia 4

PCARE c.3149_50insC

296 SCID 1

PRKDC c.10828G>T

297 SCID 2

RAG1 c.2893G>T

298 Scott syndrome

ANO6 c.1934+1G>A

299 Sensory Neuropathy 2

FAM134B c.656C>T

300 Shar-Pei Fever

MTBP c.2623G>A

301 Skeletal dysplasia, PCYT1A

PCYT1A c.673T>C

302 Skeletal dysplasia, COL11A2

COL11A2 c.143G>C

303 Spinocerebellar ataxia 1

KCNJ10 c.627C>G

304 Spinocerebellar ataxia 2

SCN81 c.4898G>T

306 Spondylocostal dysostosis

HES7 c.126delG

307 SSADHD

ALDH5A1 c.866G>A

308 Stargardt disease 1

ABCA4 c.4176insC

310 Thrombasthenia 1

ITGA2B exon12 G>C

311 Thrombopathia 1

RASGRP2 c.509_11del

312 Thrombopathia 2

RASGRP2 c.452dup

313 Thrombopathia 3

RASGRP2 c.982C>T

314 Trapped neutrophil syndrome

VPS13B c.2893_6del

315 Urolithiasis (HUU)

SLC2A9 c.616G>T

317 Von Willebrand disease I

VWF c.7437G>A

321 Warburg Micro Syndrome 1

RAB3GAP1 SINE ins

322 X-linked tremor

PLP1 c.110A>C

323 X-SCID

IL2RG 1bp ins

324 Xanthinuria, type I

XDH c.654G>A

325 Xanthinuria, type II 1

MOCOS c.232G>T

326-1 Adult-onset Deafness 1

USP31 g.25681850T>G

326-2 Adult-onset Deafness 2

USP31 g.25714052G>A

326-3 Adult-onset Deafness 3

HS3ST2 g.25819273C>A

326-4 Adult-onset Deafness 4

RBBP6 g.24500625T>G

327-1 Cystinuria Bulldog-type
329 Dilated cardiomyopathy Risk2

RNF207 c.297-1G>A

330 Laryngeal paralysis

RAPGEF6 c.1793ins36

330-1 Thyroid foll. cell carcinoma 1

TPO chr17:800788G>A

330-2 Thyroid foll. cell carcinoma 2

TPO chr17:805276C>T

331 Ventricular Arrythmias

C20H19orf70 c.325G>A

332 Brachyury

T C189G

332-1 Lichaamsgrootte
333 Muscular hypertrophy

MSTN c.939_40delTG

334 Improper Coat / Furnishings

RSPO2 167bp indel

335-1 Vachtkleur bruin (B)

TYRP1

335-2 Vachtkleur bruin b^h

TYRP1 c.125G>A

335-3 Vachtkleur bruin b^e

TYRP1 c.1025T>G

335-4 Vachtkleur bruin b^Aussie

TYRP1 c.555T>G

336-1 Vachtkleur extensie e^1

MC1R c.916C>T

336-2 Vachtkleur extensie e^2

MC1R c.432G>C

336-3 Vachtkleur extensie e^3

MC1R c.816_817del

336-4 Vachtkleur extensie E^G

MC1R c.233G>T

337-1 Zwart masker E^M

MC1R c.790A>G

338 Vachtkleur D-locus 1

MLPH c.-22G>A

339 Vachtkleur D-locus 2

MLPH c.705G>C

340 Vachtkleur D-locus 3

MLPH c.667_668insC

345 Vachtkleur Merle

PMEL SINE ins

347 Vachtkleur Himalayan

TYR c.230G>A

349 Vachtkleur Cocoa

HPS3 c.2420G>A

350 Vachtkleur Roan

USH2A 11kb dup

351-1 Vachtlengte 1

FGF5 c.284G>T

351-2 Vachtlengte 2

FGF5 c.578C>T

351-3 Vachtlengte 3

FGF5 c.556_571del16

351-4 Vachtlengte 4

FGF5 c.559_560dup

351-5 Vachtlengte 5

FGF5 c.368-11T>A

352 Vachttype SD-Locus

MC5R c.709G>A

353 Gekrulde vacht 1

KRT71 c.451C>T

354 Gekrulde vacht 2

KRT71 delinsACA


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