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Laboratory
Leber Congenital Amaurosis - Retinal dystrophy, early onset (gene panel)
Leber Congenital Amaurosis - UGent
Leber congenital amaurosis
,
Cone rod dystrophy
,
Retinitis pigmentosa
,
Senior-Loken syndrome
,
Severe early-childhood-onset retinal dystrophy
Centrum Medische Genetica - UZ Gent
Hallervorden-Spatz disease (Neurodegeneration with brain iron accumulation type 1) / HARP syndrome (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis pigmentosa, and Pallidal degeneration)
PANK2
Classic pantothenate kinase-associated neurodegeneration
,
Atypical pantothenate kinase-associated neurodegeneration
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Test Biochemical Genetics (Diagnosis of aminoacidopathy, organic aciduria and beta-oxydation defects (amino acids and acylcarnitines by MSMS))
SLC25A20
Carnitine-acylcarnitine translocase deficiency
Sciensano
Leydig cell hypoplasia or Precocious puberty, male-limited
LHCGR
Familial peripheral male-limited precocious puberty
,
Leydig cell hypoplasia due to partial LH resistance
,
Leydig cell hypoplasia due to complete LH resistance
Centre de Génétique Humaine - Erasme ULB
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
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