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Genetic tests
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Analytes
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Disease
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Myopia (early onset high myopia)
Myopia gene panel - UGent
Centrum Medische Genetica - UZ Gent
Craniosynostosis (gene panel)
Craniosynostosis (UZ Gent)
Centrum Medische Genetica - UZ Gent
Amyotrophic lateral sclerosis (ALS) / Frontotemporal demention (FTD) - GGGGCC repeat expansion in C9ORF72
C9ORF72
Amyotrophic lateral sclerosis type 4
,
Frontotemporal dementia with motor neuron disease
Centrum Medische Genetica - UZ Gent
Tuberous sclerosis
TSC1
,
TSC2
Tuberous sclerosis complex
Centrum Medische Genetica - UZ Gent
Treatable intellectual disability (tID)
Treatable intellectual disability (tID)
Centrum Medische Genetica - UZ Gent
Achondroplasia (hot spot mutation - p.Glu380Arg in FGFR3 gene)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Gent
Achromatopsia
CNGB3
,
CNGA3
Achromatopsia (2 genes) - UGent
Achromatopsia
Centrum Medische Genetica - UZ Gent
Acrocapitofemoral dysplasia / Brachydactyly, type A1
IHH
Acrocapitofemoral dysplasia
,
Brachydactyly type A1
Centrum Medische Genetica - UZ Gent
Colorectal cancer, hereditary (gene panel)
Hereditary colorectal cancer (Adenomatous polyposis, Lynch, Peutz- Jeghers, juvenile polyposis, PPAP, NAP) - UGent
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
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 (microdeletion of 3 regions of Y-chromosome AZFa, b and c )
Yq11
Partial chromosome Y deletion
Centrum Medische Genetica - UZ Gent
Congenital contractural arachnodactyly (Arthrogryposis Distal Type 9 / Beals-Hecht syndrome)
FBN2
Congenital contractural arachnodactyly
Centrum Medische Genetica - UZ Gent
Bethlem myopathy / Ullrich congenital muscular dystrophy / Myosclerosis Myopathy
Bethlem myopathy / Ullrich / Myosclerosis Myopathy - UGent
Centrum Medische Genetica - UZ Gent
Bicuspid aortic valve
Bicuspid aortic valve - UGent
Centrum Medische Genetica - UZ Gent
Birt-Hogg-Dubé syndrome
FLCN
Birt-Hogg-Dubé syndrome
Centrum Medische Genetica - UZ Gent
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