Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
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
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
Mitochondrial disorders, mitchondrial DNA based (Full sequencing of mtDNA genome) mitochondrial disorders, mitochondrial DNA based / mtDNA resequencing - VUB Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, Autosomal dominant progressive external ophthalmoplegia, Autosomal recessive progressive external ophthalmoplegia, Isolated cytochrome C oxidase deficiency, Maternally-inherited diabetes and deafness, Kearns-Sayre syndrome, Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure, Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy, Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies, Mitochondrial DNA depletion syndrome, hepatocerebrorenal form, Proximal myopathy with focal depletion of mitochondria, Pearson syndrome Centrum Medische Genetica - UZ Brussel VUB
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