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Analytes
Gene panels
Disease
Laboratory
Paraganglioma-pheochromocytoma (gene panel)
SDHA
,
SDHB
,
SDHC
,
SDHD
,
SDHAF2
,
RET
,
VHL
,
NF1
Paraganglioma-pheochromocytoma (7 genes) - KUL
Hereditary pheochromocytoma-paraganglioma
Centrum Menselijke Erfelijkheid - KUL
Von Hippel Lindau
VHL
Von Hippel-Lindau disease
Centrum Menselijke Erfelijkheid - KUL
Pheochromocytoma - paraganglioma syndrome (gene panel)
SDHB
,
SDHC
,
SDHD
,
SDHA
,
MAX
,
TMEM127
,
SDHAF2
,
VHL
,
RET
,
SUCLG2
Pheochromocytoma - paraganglioma syndrome - UGent
Hereditary pheochromocytoma-paraganglioma
Centrum Medische Genetica - UZ Gent
Von Hippel Lindau syndrome
VHL
Von Hippel-Lindau disease
Centrum Medische Genetica - UZ Gent
Paraganglioma-pheochromocytoma (6 genes) - ULG
RET
,
VHL
,
SDHA
,
SDHB
,
SDHC
,
SDHD
Paraganglioma-pheochromocytoma (6 genes) - ULG
Hereditary pheochromocytoma-paraganglioma
,
Von Hippel-Lindau disease
,
Multiple endocrine neoplasia type 2B
,
Multiple endocrine neoplasia type 2A
Centre de Génétique Humaine - CHU Sart-Tilman
Renal carcinoma (4 genes)
MET
,
FH
,
FLCN
,
VHL
Renal carcinoma (4 genes) - UCL
Clear cell renal carcinoma
Centre de Génétique Médicale UCL
Von Hippel Lindau disease
VHL
Von Hippel-Lindau disease
Centre de Génétique Médicale UCL
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
Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations)
CACNA1S
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Malignant hypertermia
RYR1
,
CACNA1S
Malignant hyperthermia of anesthesia
Centrum Medische Genetica - UZ Gent
Ocular albinism and oculocutaneous albinism type 1, 2, 3, 4, 6, 7, 8 (gene panel)
TYR
,
OCA2
,
TYRP1
,
SLC45A2
,
SLC24A5
,
LRMDA
,
GPR143
Ocular and oculocutaneous albinism - UGent
Oculocutaneous albinism type 1A
,
Oculocutaneous albinism type 1B
,
Oculocutaneous albinism type 2
,
Oculocutaneous albinism type 3
,
Oculocutaneous albinism type 4
,
Oculocutaneous albinism type 6
,
Oculocutaneous albinism type 7
Centrum Medische Genetica - UZ Gent
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