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Laboratory
Craniosynostosis syndromes (Apert, Crouzon)
FGFR2
Crouzon syndrome
,
Apert syndrome
Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Apert syndrome (hot spot mutations - exon 7)
FGFR2
Apert syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
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
CYP2C19*2,*3,*17 genotyping - drug metabolism - Pharmacogenetics
CYP2C19
Antidepressant or antipsychotic toxicity or dose selection
,
Resistance to clopidogrel
,
Voriconazole toxicity
Centre de Génétique Médicale UCL
Amyotrophic lateral sclerosis (GGGGCC repeat expansion in the C9ORF72 gene)
C9ORF72
Amyotrophic lateral sclerosis
,
Frontotemporal dementia with motor neuron disease
,
Behavioral variant of frontotemporal dementia
,
Huntington disease-like syndrome due to C9ORF72 expansions
Centrum Menselijke Erfelijkheid - KUL
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