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Analytes
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Disease
Laboratory
Malignant hypertermia
RYR1
,
CACNA1S
Malignant hyperthermia of anesthesia
Centrum Medische Genetica - UZ Gent
Feingold syndrome
MYCN
Feingold syndrome type 1
Centrum Medische Genetica - UZ Gent
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
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
Carnitine Palmitoyltransferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, myopathic form
,
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
,
Carnitine palmitoyl transferase II deficiency, myopathic form
Centrum Medische Genetica - UZ Antwerpen
Silver-Russell syndrome
11p15.5
,
7p12.1
,
7q32.2
Silver-Russell syndrome
,
Silver-Russell syndrome due to an imprinting defect of 11p15
,
Silver-Russell syndrome due to 11p15 microduplication
Centre de Génétique Médicale UCL
Uniparental disomy
7p12.1
,
7q32.2
Silver-Russell syndrome
Centre de Génétique Médicale UCL
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