Genetic tests

Full name Analytes Gene panels Disease Laboratory
Treacher Collins (gene panel) POLR1C, POLR1D, TCOF1 Treacher Collins (3 genes) - UZA Treacher-Collins syndrome Centrum Medische Genetica - UZ Antwerpen
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
Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel) Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic kidney disease, Isolated polycystic liver disease, Infantile nephronophthisis, Juvenile nephronophthisis, Late-onset nephronophthisis, Bardet-Biedl syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Enzymatic dosage MPS1/Hurler syndrome Hurler-Scheie syndrome, Hurler syndrome Centrum Medische Genetica - UZ Brussel VUB
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