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Analytes
Gene panels
Disease
Laboratory
Skeletal dysplasia (gene panel)
Skeletal dysplasia (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Usher syndrome (gene panel)
CDH23
,
CLRN1
,
WHRN
,
ADGRV1
,
MYO7A
,
PCDH15
,
PDZD7
,
USH1C
,
USH1G
,
USH2A
Usher syndrome (10 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
Cerebral palsy (gene panel)
Cerebral palsy (212 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
Epilepsy (gene panel)
Rare epilepsy with developmental delay (> 240 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
Short stature/ Growth retardation/ (gene panel)
Growth retardation/short stature (genepanel) - 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
Hearing loss (deafness), (gene panel)
Hearing loss (deafness) (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Hyperinsulinism (gene panel)
Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Intellectual disability (gene panel)
Intellectual disability (>1360 genes) - 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
Hereditary Spastic Paraplegia (gene panel)
Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Epilepsy without developmental delay, familial (gene panel)
(Familial) epilepsy without developmental delay (gene panel)
Centrum Medische Genetica - UZ Antwerpen
Dementia, young onset (gene panel)
Dementia, young onset (gene panel)
Centrum Medische Genetica - UZ Antwerpen
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations)
ASPA
,
ELP1
,
HEXA
,
FANCC
Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
Centrum Medische Genetica - UZ Antwerpen
Maturity onset Diabete of the Young (MODY), type 5 / Renal cysts and diabetes syndrome (gene panel)
Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Peripheral neuropathy (gene panel)
Neuropathy (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Myopathy (gene panel)
Myopathy (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
DPYD
5-fluorouracil toxicity
Centrum Medische Genetica - UZ Antwerpen
Achondroplasia (hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Antwerpen
Adams-Oliver syndrome (gene panel)
ARHGAP31
,
DOCK6
,
RBPJ
,
NOTCH1
,
DLL4
,
EOGT
Adams-Oliver (6 genes) - UZA
Adams-Oliver syndrome
Centrum Medische Genetica - UZ Antwerpen
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