Genetic tests

Full name Analytes Gene panels Disease Laboratory
Mc Cune Albright syndrome GNAS McCune-Albright syndrome Centre de Génétique Humaine - Erasme ULB
Pancreatitis, hereditary (7 genes) CASR, CFTR, CLDN2, CPA1, CTRC, PRSS1, SPINK1 Pancreatitis (7 genes) - ULB Hereditary chronic pancreatitis Centre de Génétique Humaine - Erasme ULB
Thiopurine S-Methyltransferase deficiency - TPMT genotyping c.238G>C (rs1800462); c.460G>A (rs1800460); c.719A>G (rs1142345)) - Pharmacogenetics TPMT Azathioprine or 6-mercatopurine toxicity or dose selection Centre de Génétique Humaine - Erasme ULB
Achondroplasia (FGFR3 hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Brussel VUB
Achondroplasia (hot spot mutation - p.Gly380Arg) FGFR3 Achondroplasia Centre de Génétique Humaine - CHU Sart-Tilman
Beta-globin hemoglobinopathies, Hemoglobinopathy C (HbC) (HBB hot spot mutation - p.Glu6Lys) HBB Hemoglobin C disease Centrum Medische Genetica - UZ Brussel VUB
Beta-globin hemoglobinopathies, Sickle cell anemia (HbS) (HBB hot spot mutation - p.Glu6Val) HBB Sickle cell anemia Centrum Medische Genetica - UZ Brussel VUB
Cystic Fibrosis / related disorders (CFTR gene 88 hot spot mutations / newborn screening 12 hot spot mutations) CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens Centrum Medische Genetica - UZ Brussel VUB
Dentatorubral pallidoluysian atrophy - ATN1 gene CAG repeat expansion ATN1 Dentatorubral pallidoluysian atrophy Centrum Medische Genetica - UZ Brussel VUB
Fragile X syndrome/POF/FXTAS - FMR1 gene CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers, Premature Ovarian Failure 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
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
Hemochromatosis hereditary type 1 (HFE gene hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centrum Medische Genetica - UZ Brussel VUB
Huntington disease - HTT gene CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Brussel VUB
Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations) CACNA1S Hypokalemic periodic paralysis Centrum Medische Genetica - UZ Brussel VUB
Kennedy disease / Spinal and bulbar muscular atrophy (SBMA) - AR gene CAG repeat expansion AR Kennedy disease 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 LHON (3 genes) - VUB Leber hereditary optic neuropathy Centrum Medische Genetica - UZ Brussel VUB
Congenital hemangioma (2 genes) GNAQ, GNA11 Familial multiple nevi flammei, Sturge-Weber syndrome, Uveal melanoma Centrum Menselijke Erfelijkheid - KUL
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G) MT-TL1 MELAS Centrum Medische Genetica - UZ Brussel VUB
Myoadenylate deaminase deficiency (AMPD1 gene hot spot mutation - p.Gln12*) AMPD1 Adenosine monophosphate deaminase deficiency Centrum Medische Genetica - UZ Brussel VUB
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