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FMR1-premutation instability
FMR1
Fragile X syndrome
Centrum Menselijke Erfelijkheid - KUL
Fragile X syndrome/POF/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique Médicale UCL
Fragile X syndrome/POF/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centrum Medische Genetica - UZ Gent
Fragile X syndrome/POF/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Fragile X syndrome/FXPOI/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centrum Medische Genetica - UZ Antwerpen
Fragile X syndrome/POF/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique Humaine - Erasme ULB
Fragile X syndrome/POF/FXTAS - FMR1 gene CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
,
Premature Ovarian Failure
Centrum Medische Genetica - UZ Brussel VUB
Fragile X syndrome and fragile X-associated disorders (FXTAS, FXPOI)
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique Humaine - CHU Sart-Tilman
Fragile X syndrome/FXPOI/FXTAS - FMR1 CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centrum Menselijke Erfelijkheid - KUL
Leigh syndrome
COX15
Leigh syndrome with leukodystrophy
,
Leigh syndrome with cardiomyopathy
Centrum Medische Genetica - UZ Brussel VUB
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
Hereditary Polyposis Panel (11 genes) - ULG
APC
,
MUTYH
,
BMPR1A
,
NTHL1
,
SMAD4
,
MSH3
,
POLE
,
POLD1
,
PTEN
,
STK11
,
GREM1
Hereditary Polyposis Panel (11 genes) - ULG
Familial adenomatous polyposis
,
MUTYH-related attenuated familial adenomatous polyposis
,
Turcot syndrome with polyposis
,
Hereditary mixed polyposis syndrome
,
Generalized juvenile polyposis/juvenile polyposis coli
Centre de Génétique Humaine - CHU Sart-Tilman
Adenomatous polyposis, familial (gene panel)
APC
,
MUTYH
,
BMPR1A
,
EPCAM
,
GREM1
,
MLH1
,
MSH2
,
MSH3
,
MSH6
,
NTHL1
,
PMS2
,
POLD1
,
POLE
,
PTEN
,
STK11
,
CDH1
,
SMAD4
,
TP53
Familial adenomatous polyposis
,
MUTYH-related attenuated familial adenomatous polyposis
,
Hereditary nonpolyposis colorectal cancer
,
Lynch syndrome
Centre de Génétique Médicale UCL
Hereditary nonpolyposis colorectal cancer (gene panel)
MLH1
,
MSH2
,
MSH6
,
PMS2
,
EPCAM
,
APC
,
BMPR1A
,
CDH1
,
GREM1
,
MSH3
,
MUTYH
,
NTHL1
,
POLD1
,
POLE
,
PTEN
,
STK11
,
SMAD4
,
TP53
Hereditary nonpolyposis colorectal cancer
,
Lynch syndrome
,
Constitutional mismatch repair deficiency syndrome
Centre de Génétique Médicale UCL
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
Hereditary nonpolyposis colorectal cancer / Lynch syndrome (8 genes)
MLH1
,
MSH2
,
MSH6
,
EPCAM
,
MUTYH
,
POLE
,
POLD1
,
TP53
Hereditay Non Polyposis Colorectal Cancer (8 genes) - ULG
Lynch syndrome
,
Constitutional mismatch repair deficiency syndrome
,
Hereditary nonpolyposis colorectal cancer
Centre de Génétique Humaine - CHU Sart-Tilman
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Down syndrome
,
Trisomy 13
,
Trisomy 18
Centrum Menselijke Erfelijkheid - KUL
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Down syndrome
,
Trisomy 13
,
Trisomy 18
Centrum Medische Genetica - UZ Gent
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Down syndrome
,
Trisomy 13
,
Trisomy 18
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Centrum Medische Genetica - UZ Brussel VUB
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