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Analytes
Gene panels
Disease
Laboratory
Ectopia lentis
LTBP2
,
ADAMTSL4
,
FBN1
Isolated ectopia lentis
Centrum Medische Genetica - UZ Gent
Neuroblastoma (2 genes)
ALK
,
PHOX2B
Neuroblastoma (2 genes) - UCL
Neuroblastoma
Centre de Génétique Médicale UCL
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
TPMT and NUDT15 sequencing - Pharmacogenetics
TPMT
,
NUDT15
Cisplatin toxicity
,
Azathioprine or 6-mercatopurine toxicity or dose selection
Centre de Génétique Médicale UCL
CANVAS disease - repeat in RFC1 gene
RFC1
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Centrum Menselijke Erfelijkheid - KUL
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