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Analytes
Gene panels
Disease
Laboratory
Cardiofaciocutaneous syndrome (5 genes)
HRAS
,
KRAS
,
BRAF
,
MAP2K2
,
MAP2K1
Cardiofaciocutaneous syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Vascular malformations (somatic)
AKT1
,
AKT2
,
AKT3
,
ALK
,
BRAF
,
GNA11
,
GNA14
,
GNAQ
,
HRAS
,
IDH1
,
IDH2
,
KRAS
,
NRAS
,
PIK3CA
,
PIK3R1
,
PIK3R2
,
PTEN
,
TEK
,
MAP3K3
,
MAP2K1
Vascular malformations (somatic) (19 genes) - UCL
Capillary malformation-arteriovenous malformation
,
CLOVES syndrome
,
Maffucci syndrome
,
Proteus syndrome
Centre de Génétique Médicale UCL
Hypermethylation promoter MLH1 and p.V600 of BRAF1
MLH1
,
BRAF
Lynch syndrome
Centrum Menselijke Erfelijkheid - KUL
Lynch syndrome - MLH1 promoter hypermethylation and BRAF V600E mutation
MLH1
,
BRAF
Selection of therapeutic option in colorectal cancer
Centre de Génétique Humaine - CHU Sart-Tilman
Perrault syndrome (gene panel)
TWNK
,
CLPP
,
HARS2
,
HSD17B4
,
LARS2
Perrault syndrome (5 genes) - UZA
Perrault syndrome
Centrum Medische Genetica - UZ Antwerpen
CYP2D6 genotyping (full gene sequencing + pseudogene and CNV analysis)- drug metabolism - Pharmacogenetics
CYP2D6
Codeine toxicity
,
Resistance to tamoxifene
,
Antidepressant or antipsychotic toxicity or dose selection
Centre de Génétique Médicale UCL
Canavan disease (hot spot mutation - p.Glu285Ala, p.Tyr231*)
ASPA
Mild Canavan disease
,
Severe Canavan disease
Centrum Medische Genetica - UZ Antwerpen
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
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