Genetic tests | Belgian Genetic Tests database

Statistics

Type	Total	Last update
Genetic tests	859	2024-02-16
Diseases	4232	2023-06-22
Analytes	6169	2023-12-20
Gene panels	380	2024-03-20

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
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD2A, DPYD13, c.2846A>T, HapB3)	DPYD		5-fluorouracil toxicity	Centrum Medische Genetica - UZ Antwerpen
5-fluorouracil (5-FU) toxicity - DPYD sequencing (all exons) - Pharmacogenetics	DPYD		5-fluorouracil toxicity	Centre de Génétique Médicale UCL
Dihydropyrimidine dehydrogenase deficiency (5-fluorouracil (5-FU) toxicity) - Pharmacogenetics	DPYD		5-fluorouracil toxicity, Dihydropyrimidine dehydrogenase deficiency	Centre de Génétique Humaine - CHU Sart-Tilman
5-fluorouracil toxicity - DPYD genotyping (4 hot spot mutations - DPYD2A, DPYD13, D949V, HapB3) - Pharmacogenetics	DPYD		5-fluorouracil toxicity	Centre de Génétique Médicale UCL
Dihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity - pharmacogenetics (4 variants: DPYD2A, DPYD13, c.2846A>T, HapB3) - Pharmacogenetics	DPYD		Dihydropyrimidine dehydrogenase deficiency	Centrum Medische Genetica - UZ Gent
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD2A, DPYD13, c.2846A>T, HapB3)	DPYD		Dihydropyrimidine dehydrogenase deficiency	Centrum Menselijke Erfelijkheid - KUL
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
Ocular albinism and oculocutaneous albinism type 1, 2, 3, 4, 6, 7, 8 (gene panel)	TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA, GPR143	Ocular and oculocutaneous albinism - UGent	Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B, Oculocutaneous albinism type 2, Oculocutaneous albinism type 3, Oculocutaneous albinism type 4, Oculocutaneous albinism type 6, Oculocutaneous albinism type 7	Centrum Medische Genetica - UZ Gent

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