Genetic tests

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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
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)
Cholestasis, progressive familial intrahepatic (gene panel)	ABCB11, ABCB4, ATP8B1, NR1H4, TJP2	Cholestasis, progressive familial intrahepatic (5 genes) - UCL	Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 4, Progressive familial intrahepatic cholestasis type 5, Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 2	Centre de Génétique Médicale UCL
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes	Chromosome 21, Chromosome 13, Chromosome 18		Down syndrome, Trisomy 13, Trisomy 18	Centrum Menselijke Erfelijkheid - KUL
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes	Chromosome 21, Chromosome 13, Chromosome 18		Down syndrome, Trisomy 13, Trisomy 18	Centrum Medische Genetica - UZ Gent
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes	Chromosome 21, Chromosome 13, Chromosome 18		Down syndrome, Trisomy 13, Trisomy 18	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)

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