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Analytes
Gene panels
Disease
Laboratory
Obesity (gene panel)
ADCY3
,
BDNF
,
LEP
,
LEPR
,
MC3R
,
MC4R
,
NR0B2
,
NTRK2
,
PCSK1
,
POMC
,
SIM1
,
UCP3
Obesitas (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Fanconi anemia (FANCC) (hot spot mutation - c.456+4A>T)
FANCC
Fanconi anemia
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
Agammaglobulinemia
PIK3R1
Autosomal agammaglobulinemia
Centrum Menselijke Erfelijkheid - KUL
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
Renal carcinoma (4 genes)
MET
,
FH
,
FLCN
,
VHL
Renal carcinoma (4 genes) - UCL
Clear cell renal carcinoma
Centre de Génétique Médicale UCL
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