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TPMT*2,*3A, *3B, *3C, *3D, *4 - drug metabolism - Pharmacogenetics
TPMT
Centre de Génétique Médicale UCL
Parkinson (gene panel)
Parkinson (18 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Epidermal nevus syndrome (gene panel)
epidermal nevus syndrome (65 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Overgrowth & vascular anomalies (gene panel)
Overgrowth & vascular anomalies (65 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Maffucci syndrome (gene panel)
Maffucci syndrome (65 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations)
ASPA
,
ELP1
,
HEXA
,
FANCC
Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
Centrum Medische Genetica - UZ Antwerpen
MTHFR c.677C>T et c.1298A>C -drug metabolism - Pharmacogenetics
MTHFR
Centre de Génétique Médicale UCL
X-chromosome inactivation
Centrum Medische Genetica - UZ Brussel VUB
Alzheimer disease (3 genes)
Alzheimer erly-onset disease (3 genes) -KUL
Centrum Menselijke Erfelijkheid - KUL
Zygosity (medical)
Centrum Menselijke Erfelijkheid - KUL
Resistance to clopidrogel - PON1 genotyping (Q192R) - Pharmacogenetics
Centre de Génétique Médicale UCL
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
DPYD
5-fluorouracil toxicity
Centrum Medische Genetica - UZ Antwerpen
5-fluorouracil toxicity - DPYD genotyping (4 hot spot mutations - DPYD*2A, DPYD*13, D949V, HapB3) - Pharmacogenetics
DPYD
5-fluorouracil toxicity
Centre de Génétique Médicale UCL
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics
HLA-B
Abacavir toxicity
Centre de Génétique Humaine - CHU Sart-Tilman
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics
HLA-B
Abacavir toxicity
Centrum Medische Genetica - UZ Brussel VUB
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics
HLA-B
Abacavir toxicity
Centrum Medische Genetica - UZ Gent
Achondroplasia (hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Antwerpen
Achondroplasia (hot spot mutation - p.Glu380Arg in FGFR3 gene)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Gent
Achondroplasia (FGFR3 hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Brussel VUB
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