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Analytes
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Laboratory
Gorlin syndrome (gene panel)
PTCH1
,
PTCH2
,
SUFU
Gorlin syndrome (3 genes)
Gorlin syndrome
Centre de Génétique Médicale UCL
Medulloblastoma (3 genes)
PTCH1
,
PTCH2
,
SUFU
Medulloblastoma (3 genes) - UCL
Medulloblastoma
,
Gorlin syndrome
Centre de Génétique Médicale UCL
Vitelliform Macular Dystrophy
BEST1
,
PRPH2
,
IMPG1
,
IMPG2
Best vitelliform macular dystrophy
,
Adult-onset foveomacular vitelliform dystrophy
Centrum Medische Genetica - UZ Gent
Autoimmune disease, multisystem, infantile-onset (ADMIO) / Hyper-IgE recurrent infection syndrome
STAT3
STAT3-related early-onset multisystem autoimmune disease
,
Autosomal dominant hyper-IgE syndrome
Centrum Menselijke Erfelijkheid - KUL
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