Genetic tests

Full name Analytes Gene panels Disease Laboratory
Coagulopathies (2 genes) ITGA2B, ITGB3 Autosomal dominant macrothrombocytopenia, Glanzmann thrombasthenia, Fetal and neonatal alloimmune thrombocytopenia Centre de Génétique Médicale UCL
Hepatorenal disorders (gene panel) BCS1L, CC2D2A, DCDC2, EHHADH, HNF1B, INVS, MKS1, NPHP1, NPHP3, NPHP4, PKHD1, POLG, TMEM216 Hepatorenal disorders (13 genes) - UCL GRACILE syndrome, Mitochondrial DNA-associated Leigh syndrome, Isolated complex III deficiency, Joubert syndrome, Meckel syndrome, Isolated neonatal sclerosing cholangitis, Primary Fanconi renotubular syndrome, HNF1B-related autosomal dominant tubulointerstitial kidney disease, Infantile nephronophthisis, Bardet-Biedl syndrome, Senior-Loken syndrome, Autosomal recessive polycystic kidney disease Centre de Génétique Médicale UCL
Gaucher disease diagnostic (GBA gene sequencing) GBA1 Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; ) GBA1 Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Gaucher disease Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease Centrum Medische Genetica - UZ Brussel VUB
Polycystic kidney disease type 1 and 2 PKD1, PKD2 Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Centrum Medische Genetica - UZ Gent
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