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Analytes
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Laboratory
Cerebral cavernous malformation (gene panel)
KRIT1
,
CCM2
,
PDCD10
Cerebral cavernous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Familial cerebral cavernous malformation
Centre de Génétique Médicale UCL
Neurofibromatosis type 1 / Legius syndrome
NF1
,
SPRED1
Neurofibromatosis type 1
,
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
,
17q11 microdeletion syndrome
,
Legius syndrome
Centrum Medische Genetica - UZ Gent
DICER1 Syndrome
DICER1
Maligant granulosa cell tumor of the ovary
Centrum Menselijke Erfelijkheid - KUL
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
Dicer1 tumor predisposition syndrome
DICER1
Familial multinodular goiter
,
DICER1 tumor-predisposition syndrome
,
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
,
Malignant Sertoli-Leydig cell tumor of the ovary
,
Maligant granulosa cell tumor of the ovary
,
Gynandroblastoma
Centrum Medische Genetica - UZ Gent
CANVAS disease - repeat in RFC1 gene
RFC1
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Centrum Menselijke Erfelijkheid - KUL
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