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Analytes
Gene panels
Disease
Laboratory
Breast and Ovarian Cancer, HBOC, Familial (17 genes)
BRCA1
,
BRCA2
,
TP53
,
PALB2
,
CHEK2
,
ATM
,
BRIP1
,
RAD51C
,
RAD51D
,
MLH1
,
MSH2
,
MSH6
,
BARD1
,
CDH1
,
EPCAM
,
PMS2
,
PTEN
Hereditary breast and/or ovarian cancer syndrome
Centre de Génétique Médicale UCL
Ataxia telangiectasia
ATM
Ataxia-telangiectasia
Centrum Medische Genetica - UZ Gent
Breast and Ovarian Cancer, hereditary, HBOC, Familial (gene panel)
BRCA1
,
BRCA2
,
PALB2
,
TP53
,
CHEK2
,
ATM
,
BRIP1
,
RAD51C
,
RAD51D
,
MLH1
,
MSH2
,
MSH6
,
BARD1
Breast/ ovarian cancer (12 genes) - UZA
Hereditary breast cancer
,
Hereditary breast and/or ovarian cancer syndrome
Centrum Medische Genetica - UZ Antwerpen
Breast and Ovarian cancer, HBOC, familial (gene panel - 17 genes)
BRCA1
,
BRCA2
,
TP53
,
PALB2
,
CHEK2
,
BRIP1
,
RAD51C
,
RAD51D
,
MLH1
,
MSH2
,
MSH6
,
ATM
Breast/Ovarian cancer (17 genes) - ULB
Hereditary breast cancer
Centre de Génétique Humaine - Erasme ULB
Hereditary Breast and Ovarian Cancer, HBOC (13 genes)
BRCA1
,
BRCA2
,
TP53
,
PALB2
,
CHEK2
,
MLH1
,
MSH2
,
MSH6
,
BRIP1
,
BARD1
,
RAD51C
,
RAD51D
,
ATM
Breast cancer, hereditary (13 genes) - ULG
Hereditary breast cancer
,
Hereditary breast and/or ovarian cancer syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Hereditary cancer (Breast, ovary, colon) (26 genes)
BRCA1
,
BRCA2
,
BARD1
,
BRIP1
,
CDH1
,
MLH1
,
MSH2
,
MSH6
,
MEN1
,
PTEN
,
RAD50
,
RAD51D
,
STK11
,
TP53
,
CHEK2
,
MUTYH
,
PALB2
,
RAD51C
,
ATM
,
EPCAM
,
BLM
,
NBN
,
PMS2
,
XRCC2
,
ABRAXAS1
,
MRE11
Cancer (Breast, ovary, colon,…) (26 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Achondroplasia (hot spot mutation - p.Glu380Arg in FGFR3 gene)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Gent
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250 in FGFR3 gene )
FGFR3
Muenke syndrome
Centrum Medische Genetica - UZ Gent
Hypochondroplasia (hot spot mutations - p.Asn540; p.Ile538; p.Lys650 FGFR3)
FGFR3
Hypochondroplasia
Centrum Medische Genetica - UZ Gent
Thanatophoric dysplasia (hot spot mutations - p.Arg248 / p.Gly370 / p.Ser371 / p.Tyr373 / p.Lys650 / p.X806 in FGFR3 gene)
FGFR3
Thanatophoric dysplasia type 2
,
Thanatophoric dysplasia type 1
Centrum Medische Genetica - UZ Gent
Achondroplasia (hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
FGFR3
Muenke syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypochondroplasia (hot spot mutation - p.Asn540)
FGFR3
Hypochondroplasia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu)
FGFR3
Thanatophoric dysplasia type 1
,
Thanatophoric dysplasia type 2
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Achondroplasia (hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
FGFR3
Muenke syndrome
Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (hot spot mutation - p.Asn540Lys)
FGFR3
Hypochondroplasia
Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing)
FGFR3
Hypochondroplasia
Centrum Medische Genetica - UZ Antwerpen
Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys)
FGFR3
Thanatophoric dysplasia type 1
,
Thanatophoric dysplasia type 2
Centrum Medische Genetica - UZ Antwerpen
Achondroplasia (hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centre de Génétique Humaine - Erasme ULB
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