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Disease
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Neurodegeneration with Brain Iron Accumulation (gene panel)
Neurodegeneration with Brain Iron Accumulation (NBIA) - UGent
Centrum Medische Genetica - UZ Gent
Neuromuscular disorders (gene panel)
Neuromuscular disorders - UGent
Centrum Medische Genetica - UZ Gent
Paroxysmal Episodic Disorders (gene panel)
Paroxysmal Episodic disorders - UGent
Centrum Medische Genetica - UZ Gent
Primary immune deficiencies (gene panel)
Primary immune deficiencies - UGent
Centrum Medische Genetica - UZ Gent
Progressive Myoclonic Epilepsy (PME) (gene panel)
Progressive Myoclonic Epilepsy - UGent
Centrum Medische Genetica - UZ Gent
Retinal dystrophy / RETNET (gene panel)
Retinal dystrophy - UGent
Centrum Medische Genetica - UZ Gent
Skin disorders (gene panel)
Skin disorders - UGent
Centrum Medische Genetica - UZ Gent
Stroke (gene panel)
Stroke - UGent
Centrum Medische Genetica - UZ Gent
Adams-Oliver syndrome (gene panel)
ARHGAP31
,
DOCK6
,
RBPJ
,
NOTCH1
,
DLL4
,
EOGT
Adams-Oliver (6 genes) - UZA
Adams-Oliver syndrome
Centrum Medische Genetica - UZ Antwerpen
Cardiomyopathy: hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular non-compaction cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy (gene panel)
Cardiomyopathy (genepanel) - UZA
Familial isolated dilated cardiomyopathy
,
Familial isolated restrictive cardiomyopathy
,
Left ventricular noncompaction
,
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Centrum Medische Genetica - UZ Antwerpen
Cerebral palsy (gene panel)
Cerebral palsy (212 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
,
Charcot-Marie-Tooth disease type 1E
Centrum Medische Genetica - UZ Antwerpen
Aneurysm, Thoracic Aortic, familial (gene panel)
Familial Thoracic Aortic Aneurysm (genepanel) - UZA
Familial thoracic aortic aneurysm and aortic dissection
Centrum Medische Genetica - UZ Antwerpen
Short stature/ Growth retardation/ (gene panel)
Growth retardation/short stature (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Intellectual disability (gene panel)
Intellectual disability (>1360 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
Obesity (gene panel)
ADCY3
,
BDNF
,
LEP
,
LEPR
,
MC3R
,
MC4R
,
NR0B2
,
NTRK2
,
PCSK1
,
POMC
,
SIM1
,
UCP3
Obesitas (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Primary Electrical disorders / Brugada syndrome / Long QT syndrome (LQT) / Short QT syndrome (SQT) / Arrhythmogenic right ventricular cardiomyopathy (ARVC) / Catecholaminergic polymorphic ventricular tachycardia (CPVT) (gene panel)
ABCB4
,
ABCC9
,
ACTN2
,
AKAP9
,
ANK2
,
CACNA1C
,
CACNB2
,
CALM1
,
CALM2
,
CALM3
,
CASQ2
,
CAV3
,
CTNNA3
,
DES
,
DPP6
,
DSC2
,
DSG2
,
DSP
,
GJA1
,
GJA5
,
GPD1L
,
HCN4
,
JUP
,
KCNA5
,
KCND3
,
KCNE1
,
KCNE2
,
KCNE3
,
KCNE5
,
KCNH2
,
KCNJ2
,
KCNJ5
,
KCNJ8
,
KCNQ1
,
LMNA
,
NKX2-5
,
NOS1AP
,
NPPA
,
PKP2
,
PLN
,
PRKAG2
,
RANGRF
,
RYR2
,
SCN1B
,
SCN2B
,
SCN3B
,
SCN4B
,
SCN5A
,
SCN10A
,
SLMAP
,
SNTA1
,
TGFB3
,
TMEM43
,
TRDN
,
TRPM4
,
CACNA2D1
,
KCNK17
,
RRAD
,
PPA2
,
GNB5
Primary Electrical disorders/Brugada syndrome (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Skeletal dysplasia (gene panel)
Skeletal dysplasia (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Ataxia (autosomic dominant and recessive / except expansion of triplets) (gene panel - 722 genes)
Ataxia (348 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Congenital malformation (gene panel - 1721 genes)
Congenital malformation (1721 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
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