Genetic tests

Full name Analytes Gene panels Disease Laboratory
Canavan disease (hot spot mutation - p.Glu285Ala, p.Tyr231*) ASPA Mild Canavan disease, Severe Canavan disease Centrum Medische Genetica - UZ Antwerpen
Dysautonomia, familial (FD) (hot spot mutation - c.2204+6T>C) ELP1 Familial dysautonomia Centrum Medische Genetica - UZ Antwerpen
Fanconi anemia (FANCC) (hot spot mutation - c.456+4A>T) FANCC Fanconi anemia Centrum Medische Genetica - UZ Antwerpen
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centrum Medische Genetica - UZ Antwerpen
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations) ASPA, ELP1, HEXA, FANCC Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA Centrum Medische Genetica - UZ Antwerpen
Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser)) HEXA Tay-Sachs disease, B variant, adult form, Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form Centrum Medische Genetica - UZ Antwerpen
BAP1-tumor predisposition syndrome BAP1 BAP1-related tumor predisposition syndrome Centrum Medische Genetica - UZ Gent
Familial cancer predisposition (gene panel) Hereditary cancer predisposition - UGent Centrum Medische Genetica - UZ Gent
Colorectal cancer, hereditary (gene panel) Hereditary colorectal cancer (Adenomatous polyposis, Lynch, Peutz- Jeghers, juvenile polyposis, PPAP, NAP) - UGent Centrum Medische Genetica - UZ Gent
Ataxia telangiectasia ATM Ataxia-telangiectasia Centrum Medische Genetica - UZ Gent
Breast and Ovarian Cancer, HBOC, Hereditary Breast and ovarian cancer - UGent Hereditary breast cancer, Hereditary breast and/or ovarian cancer syndrome Centrum Medische Genetica - UZ Gent
Cowden disease / PTEN hamartoma tumor syndrome PTEN Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome Centrum Medische Genetica - UZ Gent
Familial melanoma / Familial Atypical Multiple Mole Melanoma Syndrome, FAMMM (gene panel) Familial melanoma - UGent Familial melanoma Centrum Medische Genetica - UZ Gent
Fanconi anemia (gene panel) Fanconi anemia - UGent Fanconi anemia Centrum Medische Genetica - UZ Gent
Diffuse gastric cancer, hereditary CDH1, CTNNA1 Hereditary diffuse gastric cancer Centrum Medische Genetica - UZ Gent
Li-Fraumeni Syndrome TP53 Li-Fraumeni syndrome Centrum Medische Genetica - UZ Gent
Nijmegen breakage syndrome NBN Nijmegen breakage syndrome Centrum Medische Genetica - UZ Gent
Prostate cancer (gene panel) Prostate cancer - UGent Familial prostate cancer Centrum Medische Genetica - UZ Gent
Renal cell carcinoma (kidney cancer) (gene panel) Renal cell carcinoma - UGent Centrum Medische Genetica - UZ Gent
Pancreatic cancer, familial (gene panel) Familial pancreatic cancer Centrum Medische Genetica - UZ Gent
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