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Analytes
Gene panels
Disease
Laboratory
Movement Disorders (gene panel)
Movement Disorders - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes)
keratinopathic ichthyosis (3 genes) - KUL
Autosomal dominant epidermolytic ichthyosis
,
Superficial epidermolytic ichthyosis
,
Congenital reticular ichthyosiform erythroderma
Centrum Menselijke Erfelijkheid - KUL
Dementia, young onset (gene panel)
Dementia, young onset (gene panel)
Centrum Medische Genetica - UZ Antwerpen
Lipodystrophy and/or hyperinsulinism (gene panel)
Lipodystrophy and/or hyperinsulinism (30 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Obesity (gene panel)
Obesity - 13 genes - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Stickler syndrome (gene panel)
Stickler (6 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Osteogenesis Imperfecta (gene panel)
Osteogenesis Imperfecta (25 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Craniosynostosis (gene panel)
Craniosynostosis (32 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Skeletal Dysplasia (gene panel)
Centrum Menselijke Erfelijkheid - KUL
Genetic disorders of Calcium and Phosphate metabolism (gene panel)
Genetic disorders of Calcium and Phosphate metabolism (31 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Dystonia (gene panel)
Dystonia (68 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
CANVAS disease - repeat in RFC1 gene
RFC1
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Centrum Menselijke Erfelijkheid - KUL
Inherited Kidney Diseases (Gene Panel)
Panel Nephro-ULG-V1
Centre de Génétique Humaine - CHU Sart-Tilman
Fertilisation failure-oocyte maturation arrest-embryonic arrest (gene panel)
Subfertility, infertility and gamete malfunction - UGent
Centrum Medische Genetica - UZ Gent
Li-Fraumeni syndrome
TP53
Li-Fraumeni syndrome
Centrum Menselijke Erfelijkheid - KUL
Amyloidosis (TTR full sanger exon sequencing)
TTR
Hereditary ATTR amyloidosis
,
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centre de Génétique Humaine - CHU Sart-Tilman
test (α-D-galactosidase)
Centre de Génétique Humaine - CHU Sart-Tilman
Dilated Cardiomyopathy (Gene panel)
Dilated Cardiomyopathy (79 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Silver-Russell syndrome (11p15 methylation)
Centrum Menselijke Erfelijkheid - KUL
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