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Laboratory
Von Willebrand disease
VWF
Von Willebrand disease type 1
,
Von Willebrand disease type 2A
,
Von Willebrand disease type 2M
,
Von Willebrand disease type 2B
,
Von Willebrand disease type 2N
,
Von Willebrand disease type 3
Centrum Medische Genetica - UZ Antwerpen
Mitochondrial disorders, mitchondrial DNA based (Full sequencing of mtDNA genome)
mitochondrial disorders, mitochondrial DNA based / mtDNA resequencing - VUB
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
,
Autosomal dominant progressive external ophthalmoplegia
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Autosomal recessive progressive external ophthalmoplegia
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Isolated cytochrome C oxidase deficiency
,
Maternally-inherited diabetes and deafness
,
Kearns-Sayre syndrome
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Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
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Mitochondrial DNA depletion syndrome, myopathic form
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Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
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Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
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Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
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Proximal myopathy with focal depletion of mitochondria
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Pearson syndrome
Centrum Medische Genetica - UZ Brussel VUB
Primary lymphedema / fetal hydrops (gene panel)
Lymphedema / fetal hydrops (27 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
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Cardiofaciocutaneous syndrome
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Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
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Noonan syndrome
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Oculodentodigital dysplasia
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Microcephaly-lymphedema-chorioretinopathy syndrome
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Milroy disease
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Lymphedema-distichiasis syndrome
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Lymphedema-posterior choanal atresia syndrome
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Hennekam syndrome
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Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
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Lymphangioleiomyomatosis
Centre de Génétique Médicale UCL
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
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Familial isolated restrictive cardiomyopathy
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Left ventricular noncompaction
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Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Centrum Medische Genetica - UZ Antwerpen
Cardiomyopathy, hereditary (gene panel)
Cardiomyopathy, hereditary (208 genes) - VUB
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
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Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
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Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
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Familial isolated dilated cardiomyopathy
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Familial isolated restrictive cardiomyopathy
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Left ventricular noncompaction
Centrum Medische Genetica - UZ Brussel VUB
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