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CombiBreed Santé Chien UPDATED

CombiBreed Santé Chien UPDATED

Commandez l'examen

146,94
121,44 (hors 21% TVA)

Description

Espèce cible et races

Chien

Toutes les races

Prélèvement

  • Ecouvillon génétique
  • EDTA sang complet

Délai

30 jours

Catégorie

Génétique, bilans

Code

H3223

Analyses

Achromatopsia cd^AMAL

CNGB3 404k kb del

Alexander disease

GFAP c.719G>A

alpha Fucosidosis

FUCA1 14bp del

ARDS

ANLN c.31C>T

Ataxia, HACE1

HACE1 c.1001del

Beta-mannosidosis

MANBA c.560T>A

C3 deficiency

C3 c.2136delC

Cerebellar ataxia GRM1

GRM1 62bp trunc

Cerebellar ataxia SEL1L

SEL1L c.1972T>C

Chondrodysplasia

ITGA10 c.2083C>T

Collie eye anomaly

NHEJ1 7.8kb del

Cone-rod dystrophy 1

PDE6B c.2404-6del

Cone-rod dystrophy 2

IQCB1 c.952-953insC

Cone-rod dystrophy 4

RPGRIP1 44bp ins

Craniomandibular osteopathy 2

SLC37A2 c.1446+1G>A

Cyclic neutropenia

AP3B1 1bp ins

CYP1A2 deficiency

CYP1A2 c.1117C>T

Cystinuria type I - A 1

SLC3A1 c.586C>T

Cystinuria type I - A 2

SLC3A1 c.350delG

Cystinuria type II - B

SLC7A9 c.964G>A

Deafness MYO7A-related

MYO7A c.3719G>A

Deafness, EPS8L2-related

EPS8L2 c.1033_44del

Deafness, LOXHD1-related

LOXHD1 c.5747G>C

Deafness, PTPRQ-related

PTPRQ c.9230_1insA

DSRA

MIA3 c.3822+3_+4del

Dwarfism, PRKG2-related

PRKG2 c.1634+1G>T

Ectodermal dysplasia

PKP1 c.202+1G>C

Elliptocytosis

SPTB c.6119C>T

Epilepsy, myoclonic

DIRAS1 delAGAC

Eye malformation

SIXG c.487C>T

Familal nephropathy 2

COL4A4 2806C>T

Fanconi syndrome

FAN1 317bp del

Fecundity

GDF9 c.229C>T

Gangliosidosis, GM1 1

GLB1 exon15 delC

Haemophilia A 1

F8 c.98G>A

Haemophilia A 2

F8 c.4824_25ins221

Haemophilia A 3

F8 c.1700G>A

Haemophilia A 4

F8 c.1469C>G

Haemophilia A 5

F8 c.1786C>T

Haemophilia B 1

F9 c.731G>A

Haemophilia B 2

F9 c.-73del

Haemophilia B 4

F9 c.548_553delinsT

Haemophilia B 5

F9 c.821_2insA

Hypocatalasia

CAT c.979G>A

Hypomyelination

FNIP2 c.880delA

Hypophosphatasia

ALPL c.1301T>G

Hypotrichosis, recessive 1

SGK3 c.287delTTAG

Ichthyosis, ABHD5-related

ABHD5 c.1006_19del

Inflammatory myopathy

SLC25A12 c.1046T>C

JEB, LAMA3-related 1

LAMA3 c.8615T>A

JEB, LAMB3-related

LAMB3 c.1174T>C

JLPP

RAB3GAP1 c.743delC

131-1 Keratinocytic nevi 1

NSDHL c.700G>A

131-2 Keratinocytic nevi 2

NSDHL c.718delGAACA

LAD I

ITGB2 c.350T>A

LAD III

FERMT3 12bp ins

Lagotto storage disease

ATG4D c.1288G>A

Laryngeal paralysis/pnp

CNTNAP1 c.2810G>A

Lethal Acrodermatitis

MKLN1 c.400+3A>C

Lundehund syndrome

P3H2 c.1849G>C

Macrothrombocytopenia 1

TUBB1 c.745 G>A

May-Hegglin anomaly

MYH9 c.5521G>A

Methaemoglobinaemia 1

CYB5R3 c.580A>C

Methaemoglobinaemia 2

CYB5R3 c.214G>A

Muscular dystrophy 1

DMD LINE-1 ins

Muscular dystrophy 3

DMD c.531-2A>G

Muscular dystrophy 4

DMD c.2668C>T

Muscular dystrophy 5

DMD c.2841delT

166-1 Muscular dystrophy, Ullrich 1

COL6A3 c.6210+1G>A

166-2 Muscular dystrophy, Ullrich 2

COL6A3 c.4726C>T

Musladin-Lueke syndrome

ADAMTSL2 c.660C>T

Myeloencephalopathy, PNPLA8

PNPLA8 c.1169_70dup

Centronuclear myopathy

BIN1 IVS10-2A>G

Myotonia congenita 2

CLCN1 c.2665insA

Myotonia congenita 3

CLCN1 c.2275A>T

Myotubular myopathy 2

MTM1 c.1151A>C

Myotubular myopathy 3

MTM1 c.1467C>T

Narcolepsy 1

HCRTR2 exon1 G>A

Narcolepsy 2

HCRTR2 SINE ins

Narcolepsy 3

HCRTR2 G>A

Nasal parakeratosis 2

SUV39H2 delACTT

NCL 1 - Teckel

PPT1 c.736-737insC

NCL 2

TPP1 c.325delC

NCL 4A

ARSG c.296G>A

NCL 5

CLN5 c.619C>T

NCL 5 GR

CLN5 delAG

NCL 6

CLN6 c.829T>C

NCL 7

MFSD8 c.846del

NCL 8 - 1

CLN8 c.491T>C

NCL 8 - 2

CLN8 c.585G>A

NCL 8 - Saluki

CLN8 c.349dupT

NCL 10

CTSD c.597G>A

Oculoskeletal dysplasia 1

COL9A3 exon1 insG

Osteochondrodysplasia

SLC13A1 130kb del

Osteochondromatosis

EXT2 c.924C>A

Osteogenesis imperfecta 2

SERPINH1 c.977C>T

Osteogenesis imperfecta 4

COL1A2 c.936+1G>A

Paroxysmal dyskinesia, SOD1

SOD1 c.12delinsCAC

Pituitary dwarfism POU1F1

POU1F1 c.605-3C>A

Polyneuropathy ARHGEF10

ARHGEF10 10bp del

Polyneuropathy GJA9

GJA9 c.1107_8delAG

Polyneuropathy NDRG1 1

NDRG1 c.1080-9del10

PRA BBS4-related

BBS4 c.58A>T

PRA CCDC66-related

CCDC66 1bp ins

PRA CNGA1-related

CNGA1 c.1752_5del

PRA IFT122-related

IFT122 c.3176G>A

PRA NECAP1-related

NECAP1 c.544G>A

PRA PDE6B-related

PDE6B c.2218-23del

PRA RHO-related

RHO c.11C>G

PRA SAG-related

SAG c.1216T>C

PRA STK38L-related

STK38L SINE ins

PRA TTC8-related

TTC8 c.669delA

PRA Type B1 HIVEP3-related

HIVEP3 g.1432293G>A

Primary glaucoma ADAMTS10 1

ADAMTS10 exon17 G>A

Primary glaucoma ADAMTS10 2

ADAMTS10 c.1441G>A

Primary glaucoma ADAMTS17 1

ADAMTS17 delCGTGGT

Retinal dysplasia

NDP c.653_654insC

Rod-cone dysplasia 3

PDE6 c.1741delA

Rod-cone dysplasia 4

C17H2orf71 insC

SCID 1

PRKDC c.10828G>T

SCID 2

RAG1 c.2893G>T

Scott syndrome

ANO6 g.8912219G>A

Sensory Neuropathy 2

FAM134B c.656C>T

Shar-Pei Fever

MTBP c.2623G>A

SSADHD

ALDH5A1 c.866G>A

Stargardt disease 1

ABCA4 c.4176insC

Thrombasthenia 1

ITGA2B exon12 G>C

Thrombopathia 1

RASGRP1 delTCT

Thrombopathia 2

RASGRP1 insA

Thrombopathia 3

RASGRP1 982C>T

Urolithiasis (HUU)

SLC2A9 c.616G>T

Warburg Micro Syndrome 1

RAB3GAP1 SINE ins

X-linked tremor

PLP1 c.110A>C

X-SCID

IL2RG 1bp ins

285-1 Adult-onset Deafness 1

USP31 g.25681850T>G

285-2 Adult-onset Deafness 2

USP31 g.25714052G>A

285-3 Adult-onset Deafness 3

HS3ST2 g.25819273C>A

285-4 Adult-onset Deafness 4

RBBP6 g.24500625T>G

286-1 Cystinuria Bulldog-type
Laryngeal paralysis

RAPGEF6 c.1793ins36

289-1 Thyroid foll. cell carcinoma 1

TPO chr17:800788G>A

289-2 Thyroid foll. cell carcinoma 2

TPO chr17:805276C>T

Ventricular Arrythmias

C20H19orf70 c.325G>A

Brachyury

T C189G

294-1 Couleur robe brun b^h

TYRP1 c.125G>A

294-2 Couleur robe brun b^e

TYRP1 c.1025T>G

294-3 Couleur robe brun b^Aussie

TYRP1 c.555T>G

295-1 Couleur robe extension e^1

MC1R c.916C>T

295-2 Couleur robe extension e^2

MC1R c.432G>C

295-3 Couleur robe extension e^3

MC1R c.816_817del

295-4 Couleur robe extension E^G

MC1R c.233G>T

295-5 Masque noir E^M

MC1R c.790A>G

Couleur robe D-locus 3

MLPH c.667_668insC

Couleur robe Cocoa

HPS3 c.2420G>A

Couleur robe Roan

USH2A 11kb dup

309-1 Longueur du poil 1

FGF5 c.284G>T

309-2 Longueur du poil 2

FGF5 c.578C>T

309-3 Longueur du poil 3

FGF5 c.556_571del16

309-4 Longueur du poil 4

FGF5 c.559_560dup

309-5 Longueur du poil 5

FGF5 c.368-11T>A

Poil frisé 1

KRT71 c.451C>T

Poil frisé 2

KRT71 delinsACA


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