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Analytes
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Disease
Laboratory
Small cell carcinoma of the ovary
SMARCA4
Small cell carcinoma of the ovary
Centrum Medische Genetica - UZ Gent
Rare non-epithelial ovarian neoplasms (2 genes)
DICER1
,
SMARCA4
Small cell carcinoma of the ovary
,
Malignant Sertoli-Leydig cell tumor of the ovary
,
Maligant granulosa cell tumor of the ovary
Centrum Menselijke Erfelijkheid - KUL
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
,
Cardiofaciocutaneous syndrome
,
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
,
Noonan syndrome
,
Oculodentodigital dysplasia
,
Microcephaly-lymphedema-chorioretinopathy syndrome
,
Milroy disease
,
Lymphedema-distichiasis syndrome
,
Lymphedema-posterior choanal atresia syndrome
,
Hennekam syndrome
,
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
,
Lymphangioleiomyomatosis
Centre de Génétique Médicale UCL
Lymphoproliferative syndrome, X-linked (XIAP gene)
XIAP
X-linked lymphoproliferative disease
,
X-linked lymphoproliferative disease due to XIAP deficiency
Centrum Menselijke Erfelijkheid - KUL
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
,
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
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
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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