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Analytes
Gene panels
Disease
Laboratory
Arteriovenous malformation (gene panel)
Arteriovenous malformation (7 genes)
,
Vascular malformations (germline) (38 genes) - UCL
Hereditary hemorrhagic telangiectasia
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Heritable pulmonary arterial hypertension
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Familial cerebral saccular aneurysm
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Vein of Galen aneurysmal malformation
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Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
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Capillary malformation-arteriovenous malformation
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Parkes Weber syndrome
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Microcephaly-capillary malformation syndrome
Centre de Génétique Médicale UCL
Smith Lemli Opitz
DHCR7
Smith-Lemli-Opitz syndrome
Centrum Medische Genetica - UZ Antwerpen
Metabolic diseases with hepatic disorders (20 genes)
ATP7B
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CPT1A
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CYP27A1
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DGUOK
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DHCR7
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EHHADH
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GBE1
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GNAS
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GUSB
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LIPA
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MPV17
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NEU1
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NPC1
,
NPC2
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POLG
,
SI
,
SLC25A13
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SMPD1
,
TALDO1
,
TRMU
Metabolic diseases with hepatic disorders (20 genes) - UCL
Wilson disease
,
CPT deficiency, hepatic, type IA
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Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
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Smith-Lemli-Opitz syndrome
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Primary Fanconi renotubular syndrome
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Glycogen storage disease IV
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McCune-Albright syndrome
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Mucopolysaccharidosis type 7
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Wolman disease
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Cholesteryl ester storage disease
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Sialidosis type 1
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Juvenile sialidosis type 2
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Congenital sialidosis type 2
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Niemann-Pick disease type C, severe perinatal form
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Niemann-Pick disease type C, late infantile neurologic onset
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Niemann-Pick disease type C, severe early infantile neurologic onset
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Niemann-Pick disease type C, adult neurologic onset
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Niemann-Pick disease type C, juvenile neurologic onset
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Chronic visceral acid sphingomyelinase deficiency
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Infantile neurovisceral acid sphingomyelinase deficiency
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Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
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Citrullinemia type II
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Transaldolase deficiency
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Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
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Cerebrotendinous xanthomatosis
Centre de Génétique Médicale UCL
Smith Lemli Opitz
DHCR7
Smith-Lemli-Opitz syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16)
Paternal uniparental disomy of chromosome 7
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
,
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
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Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
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Temple syndrome due to maternal uniparental disomy of chromosome 14
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Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
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Angelman syndrome due to paternal uniparental disomy of chromosome 15
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Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
,
Maternal uniparental disomy of chromosome 16
Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP20)
Paternal uniparental disomy of chromosome 7
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
,
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
,
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Centrum Menselijke Erfelijkheid - KUL
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