Genetic tests

Full name Analytes Gene panels Disease Laboratory
Fanconi anemia (gene panel) Fanconi anemia - UGent Fanconi anemia Centrum Medische Genetica - UZ Gent
Fanconi anemia (FANCC) (hot spot mutation - c.456+4A>T) FANCC Fanconi anemia Centrum Medische Genetica - UZ Antwerpen
Gilbert disease - UGT1A1*28,*36,*37 {A(TA)nTAA} + *6 genotyping - Pharmacogenetics UGT1A1 Transient familial neonatal hyperbilirubinemia, Irinotecan toxicity, Raltegravir toxicity Centre de Génétique Médicale UCL
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele) UGT1A1 Gilbert syndrome (NON RARE IN EUROPE), Irinotecan toxicity, Transient familial neonatal hyperbilirubinemia Centrum Menselijke Erfelijkheid - KUL
Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) PMP22 Charcot-Marie-Tooth disease type 1A, Dejerine-Sottas syndrome, Hereditary neuropathy with liability to pressure palsies Centrum Menselijke Erfelijkheid - KUL
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel) Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG Hemolytic uremic syndrome with DGKE deficiency, Atypical hemolytic uremic syndrome with anti-factor H antibodies, Atypical hemolytic uremic syndrome with complement gene abnormality, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with B factor anomaly, Atypical hemolytic-uremic syndrome with H factor anomaly, Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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