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Disease
Laboratory
Congenital Central Hypoventilation Syndrome / Ondine syndrome
PHOX2B
Congenital central hypoventilation syndrome
Centrum Medische Genetica - UZ Gent
Congenital structural heart defects (gene panel)
Congenital structural heart defects - UGent
Centrum Medische Genetica - UZ Gent
Cowden disease / PTEN hamartoma tumor syndrome
PTEN
Cowden syndrome
,
Bannayan-Riley-Ruvalcaba syndrome
,
Proteus syndrome
Centrum Medische Genetica - UZ Gent
Cutis Laxa / Geroderma osteodysplasticum (gene panel)
Cutis Laxa / Geroderma osteodysplasticum - UGent
Autosomal dominant cutis laxa
,
Geroderma osteodysplastica
Centrum Medische Genetica - UZ Gent
Cystic Fibrosis
CFTR
Cystic fibrosis
Centrum Medische Genetica - UZ Gent
Disorders of sex development - Primary Ovarian insufficiency - Hypogonadotropic Hypogonadism (gene panel)
Disorders of Sex Development - Primary Ovarian Insufficiency - Hypogonadotropic Hypogonadism - UGent
Centrum Medische Genetica - UZ Gent
Ectopia lentis
LTBP2
,
ADAMTSL4
,
FBN1
Isolated ectopia lentis
Centrum Medische Genetica - UZ Gent
Ectrodactyly / cleft lip/palate syndrome type 3 / Ectodermal dysplasia
Ectrodactyly / cleft lip/palate / Ectodermal dysplasia - UGent
Centrum Medische Genetica - UZ Gent
Ehlers-Danlos Syndrome, vascular type (type IV)
COL3A1
Vascular Ehlers-Danlos syndrome
Centrum Medische Genetica - UZ Gent
Fabry disease
GLA
Fabry disease
Centrum Medische Genetica - UZ Gent
Familial Exudative Vitreoretinopathy, autosomal dominant
FZD4
,
TSPAN12
,
LRP5
,
NDP
Exudative Vitreoretinopathy - UGent
Familial exudative vitreoretinopathy
Centrum Medische Genetica - UZ Gent
Familial melanoma / Familial Atypical Multiple Mole Melanoma Syndrome, FAMMM (gene panel)
Familial melanoma - UGent
Familial melanoma
Centrum Medische Genetica - UZ Gent
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centrum Menselijke Erfelijkheid - KUL
Familial Thoracic Aortic Aneurysm (gene panel)
Familial Thoracic Aortic Aneurysm (21 genes) - UGent
Familial thoracic aortic aneurysm and aortic dissection
,
Loeys-Dietz syndrome
Centrum Medische Genetica - UZ Gent
Fanconi anemia (gene panel)
Fanconi anemia - UGent
Fanconi anemia
Centrum Medische Genetica - UZ Gent
FRMD7-related infantile nystagmus / Nystagmus, infantile periodic alternating, X-linked
FRMD7
Nystagmus, infantile periodic alternating, X-linked
Centrum Medische Genetica - UZ Gent
Diffuse gastric cancer, hereditary
CDH1
,
CTNNA1
Hereditary diffuse gastric cancer
Centrum Medische Genetica - UZ Gent
Generalized Arterial Calcification of Infancy
ENPP1
,
ABCC6
Generalized arterial calcification of infancy
Centrum Medische Genetica - UZ Gent
Heart / Cardio disorders / Cardiopathy (gene panel)
cardiopathy panel - UGent
Centrum Medische Genetica - UZ Gent
Intellectual disability & Epilepsy (gene panel)
Intellectual disability & Epilepsy - UGent
Centrum Medische Genetica - UZ Gent
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