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Analytes
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Disease
Laboratory
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
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Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
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Noonan syndrome
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Oculodentodigital dysplasia
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Microcephaly-lymphedema-chorioretinopathy syndrome
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Milroy disease
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Lymphedema-distichiasis syndrome
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Lymphedema-posterior choanal atresia syndrome
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Hennekam syndrome
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Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
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Lymphangioleiomyomatosis
Centre de Génétique Médicale UCL
Birt-Hogg-Dubé syndrome
FLCN
Birt-Hogg-Dubé syndrome
Centrum Medische Genetica - UZ Gent
Birt-Hogg-Dubé syndrome
FLCN
Birt-Hogg-Dubé syndrome
Centrum Menselijke Erfelijkheid - KUL
Birt-Hogg-Dubé syndrome
FLCN
Birt-Hogg-Dubé syndrome
Centre de Génétique Médicale UCL
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel)
Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG
Hemolytic uremic syndrome with DGKE deficiency
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Atypical hemolytic uremic syndrome with anti-factor H antibodies
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Atypical hemolytic uremic syndrome with complement gene abnormality
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Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
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Atypical hemolytic-uremic syndrome with B factor anomaly
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Atypical hemolytic-uremic syndrome with H factor anomaly
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Atypical hemolytic-uremic syndrome with C3 anomaly
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Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
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Atypical hemolytic-uremic syndrome with I factor anomaly
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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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