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
Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations)	CACNA1S		Hypokalemic periodic paralysis	Centrum Medische Genetica - UZ Brussel VUB
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)	SCN4A		Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis	Centrum Medische Genetica - UZ Brussel VUB
Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))	HEXA		Tay-Sachs disease, B variant, adult form, Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form	Centrum Medische Genetica - UZ Antwerpen
GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))	HEXA		Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form, Tay-Sachs disease, B1 variant, Tay-Sachs disease, B variant, adult form	Centrum Medische Genetica - UZ Brussel VUB
Myeloid neoplasms with germline predisposition (Hereditary MDS/Acute Leukemia) (gene panel)		Hereditary Myelodysplastic /Acute Leukemia Predisposition Syndromes (gene panel)	B-cell chronic lymphocytic leukemia, Inherited acute myeloid leukemia, Chronic myeloid leukemia, Atypical chronic myeloid leukemia, Precursor B-cell acute lymphoblastic leukemia, Familial platelet disorder with associated myeloid malignancy, DDX41-related hematologic malignancy predisposition syndrome, Idiopathic aplastic anemia	Centre de Génétique Humaine - CHU Sart-Tilman
Gilbert syndrome (homozygous A(TA)7TAA allele)	UGT1A1		Gilbert syndrome (NON RARE IN EUROPE)	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele) - Pharmacogenetics	UGT1A1		Gilbert syndrome (NON RARE IN EUROPE), Irinotecan toxicity	Centre de Génétique Humaine - Erasme ULB
Gilbert disease / Irinotecan sensitivity / Raltegravir toxicity - Pharmacogenetics	UGT1A1		Gilbert syndrome (NON RARE IN EUROPE), Irinotecan toxicity	Centre de Génétique Humaine - CHU Sart-Tilman
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele)	UGT1A1		Gilbert syndrome (NON RARE IN EUROPE), Irinotecan toxicity, Transient familial neonatal hyperbilirubinemia	Centrum Menselijke Erfelijkheid - KUL

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