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Analytes
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Disease
Laboratory
Arteriovenous malformation (gene panel)
Arteriovenous malformation (7 genes)
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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
Dicer1 tumor predisposition syndrome
DICER1
Familial multinodular goiter
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DICER1 tumor-predisposition syndrome
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Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
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Malignant Sertoli-Leydig cell tumor of the ovary
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Maligant granulosa cell tumor of the ovary
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Gynandroblastoma
Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16)
Paternal uniparental disomy of chromosome 7
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Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
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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
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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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