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
Leber hereditary optic neuropathy (LHON) – (DNAJC30 gene)	DNAJC30		Leber hereditary optic neuropathy	Centrum Medische Genetica - UZ Brussel VUB
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)	MT-ND1, MT-ND4, MT-ND6		Leber hereditary optic neuropathy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)	MT-ND1, MT-ND4, MT-ND6	LHON (3 genes) - VUB	Leber hereditary optic neuropathy	Centrum Medische Genetica - UZ Brussel VUB
WAGR Syndrome	WT1		WAGR syndrome	Centrum Menselijke Erfelijkheid - KUL
Immunodeficiency 30 / Susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	IL12RB1		Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	Centrum Menselijke Erfelijkheid - KUL
Enzymatic dosage MPS1/Hurler syndrome			Hurler-Scheie syndrome, Hurler syndrome	Centrum Medische Genetica - UZ Brussel VUB
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16)			Paternal uniparental disomy of chromosome 7, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, Temple syndrome due to maternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Maternal uniparental disomy of chromosome 16	Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP20)			Paternal uniparental disomy of chromosome 7, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, Temple syndrome due to maternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	Centrum Menselijke Erfelijkheid - KUL

Did not find what you were looking for? Contact us through the support center.