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Analytes
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Disease
Laboratory
Stickler syndrome (gene panel)
Stickler syndrome - UGent
Stickler syndrome type 1
,
Stickler syndrome type 2
,
Autosomal dominant otospondylomegaepiphyseal dysplasia
Centrum Medische Genetica - UZ Gent
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
,
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
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Noonan syndrome
,
Oculodentodigital dysplasia
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Microcephaly-lymphedema-chorioretinopathy syndrome
,
Milroy disease
,
Lymphedema-distichiasis syndrome
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Lymphedema-posterior choanal atresia syndrome
,
Hennekam syndrome
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Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
,
Lymphangioleiomyomatosis
Centre de Génétique Médicale UCL
Familial Thoracic Aortic Aneurysm (gene panel)
Familial Thoracic Aortic Aneurysm (21 genes) - UGent
Familial thoracic aortic aneurysm and aortic dissection
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Loeys-Dietz syndrome
Centrum Medische Genetica - UZ Gent
Aneurysm, Thoracic Aortic, familial (gene panel)
Familial Thoracic Aortic Aneurysm (genepanel) - UZA
Familial thoracic aortic aneurysm and aortic dissection
Centrum Medische Genetica - UZ Antwerpen
Long QT syndrome
Long QT syndrome - UGent
Brugada syndrome
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Romano-Ward syndrome
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Familial atrial fibrillation
Centrum Medische Genetica - UZ Gent
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