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abacavir toxicity hlab 5701 ge
HLA-B
Abacavir toxicity
Centrum Medische Genetica - UZ Gent
achondrogenesis kniest dysplas
COL2A1
Achondrogenesis type 2
,
Hypochondrogenesis
,
Kniest dysplasia
,
Multiple epiphyseal dysplasia, Beighton type
,
Spondyloepiphyseal dysplasia congenita
,
Stickler syndrome type 1
Centrum Medische Genetica - UZ Gent
achondroplasia hot spot mutati
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Gent
achromatopsia
CNGB3
,
CNGA3
Achromatopsia (2 genes) - UGent
Achromatopsia
Centrum Medische Genetica - UZ Gent
acrocapitofemoral dysplasia br
IHH
Acrocapitofemoral dysplasia
,
Brachydactyly type A1
Centrum Medische Genetica - UZ Gent
amyotrophic lateral sclerosis
C9ORF72
Amyotrophic lateral sclerosis type 4
,
Frontotemporal dementia with motor neuron disease
Centrum Medische Genetica - UZ Gent
amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis (ALS) - UGent
Amyotrophic lateral sclerosis
,
Juvenile amyotrophic lateral sclerosis
,
Amyotrophic lateral sclerosis type 4
Centrum Medische Genetica - UZ Gent
angelman prader willi syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centrum Medische Genetica - UZ Gent
aniridia
PAX6
Aniridia-cerebellar ataxia-intellectual disability syndrome
,
Isolated aniridia
Centrum Medische Genetica - UZ Gent
anterior segment dysgenesis
Anterior segment dysgenesis - UGent
Anterior segment developmental anomaly
,
Axenfeld-Rieger syndrome
,
Rieger anomaly
Centrum Medische Genetica - UZ Gent
arrhytmogenic cardiopathy
Arrhytmogenic cardiopathy - UGent
Centrum Medische Genetica - UZ Gent
arterial tortuosity syndrome
SLC2A10
,
EFEMP2
Arterial tortuosity syndrome
Centrum Medische Genetica - UZ Gent
ataxia spasticity gene panel
Ataxia Spasticity - UGent
Centrum Medische Genetica - UZ Gent
ataxia telangiectasia
ATM
Ataxia-telangiectasia
Centrum Medische Genetica - UZ Gent
azoo oligozoospermia microdele
Yq11
Partial chromosome Y deletion
Centrum Medische Genetica - UZ Gent
bap1tumor predisposition syndr
BAP1
BAP1-related tumor predisposition syndrome
Centrum Medische Genetica - UZ Gent
bethlem myopathy ullrich conge
Bethlem myopathy / Ullrich / Myosclerosis Myopathy - UGent
Centrum Medische Genetica - UZ Gent
bicuspid aortic valve
Bicuspid aortic valve - UGent
Centrum Medische Genetica - UZ Gent
birthoggdube syndrome
FLCN
Birt-Hogg-Dubé syndrome
Centrum Medische Genetica - UZ Gent
blepharophimosis type
FOXL2
Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
,
Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
Centrum Medische Genetica - UZ Gent
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