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Analytes
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Disease
Laboratory
Combined immunodeficiency (severe), X-linked
IL2RG
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Centrum Menselijke Erfelijkheid - KUL
Hypercholesterolemia (9 genes)
LDLR
,
APOB
,
PCSK9
,
ABCG5
,
ABCG8
,
APOE
,
LDLRAP1
,
LIPA
,
STAP1
Hypercholesterolemia (9 genes) - UCL
Homozygous familial hypercholesterolemia
Centre de Génétique Médicale UCL
Hypercholesterolemia, Familial (9 genes)
LDLR
,
APOB
,
APOE
,
PCSK9
,
ABCG5
,
ABCG8
,
LDLRAP1
,
LIPA
,
STAP1
Familial Hypercholesterolemia panel (9 genes) - ULG
Homozygous familial hypercholesterolemia
,
Heterozygous familial hypercholesterolemia (NON RARE IN EUROPE)
,
Sitosterolemia
,
Cholesteryl ester storage disease
Centre de Génétique Humaine - CHU Sart-Tilman
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome
TYMP
,
POLG
,
POLG2
,
RRM2B
MNGIE syndrome (4 genes) - VUB
Mitochondrial neurogastrointestinal encephalomyopathy
Centrum Medische Genetica - UZ Brussel VUB
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
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
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
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