Genetic tests

Full name Analytes Gene panels Disease Laboratory
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centre de Génétique Humaine - Erasme ULB
Beta-globin hemoglobinopathies, phenotype modifiers (hot spot mutations - rs7482144 (Xmn1) at promoter 158 bp 5′ upstream of HBG2 / 32C-T in the 5' UTR of the HBS1L) BCL11A, HBG2, HBS1L Beta-globin hemoglobinopathies, phenotype modifiers ( 3 genes) - ULB Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome, Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hemoglobinopathy Toms River Centre de Génétique Humaine - Erasme ULB
Beta-globin hemoglobinopathies, Sickle cell anemia, Sickle cell disorder (hot spot mutation - p.Glu6Val, p.Glu6Lys) HBB Sickle cell anemia Centre de Génétique Humaine - Erasme ULB
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (88 hot spot mutations) CFTR Cystic fibrosis, Hereditary chronic pancreatitis, Congenital bilateral absence of vas deferens, Idiopathic bronchiectasis Centre de Génétique Humaine - Erasme ULB
Frequent hearing deficiency (4 genes) GJB2, GJB6, STRC, OTOA Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centre de Génétique Humaine - Erasme ULB
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centre de Génétique Humaine - Erasme ULB
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centre de Génétique Humaine - Erasme ULB
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Humaine - Erasme ULB
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
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
Cystic Fibrosis, newborn screening (12 hot spot mutations; CFTR) CFTR Cystic fibrosis Centre de Génétique Humaine - Erasme ULB
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