Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hirschsprung disease Hirschsprung disease - Ugent Hirschsprung disease Centrum Medische Genetica - UZ Gent
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma RET Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B, Familial medullary thyroid carcinoma, Hirschsprung disease Centrum Medische Genetica - UZ Gent
Hirschsprung disease RET Hirschsprung disease Centrum Menselijke Erfelijkheid - KUL
Hirschsprung disease RET Hirschsprung disease Centre de Génétique Médicale UCL
Rett syndrome MECP2 Rett syndrome, Atypical Rett syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Chronic progressive external ophthalmoplegia (CPEO) (Full sequencing of mtDNA genome) Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Centrum Medische Genetica - UZ Brussel VUB
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
Amyloidosis, cardiac (full screening of the 4 exons for TTR) TTR Hereditary ATTR amyloidosis Centrum Medische Genetica - UZ Antwerpen
TRANSTHYRETIN (TTR) Analysis TTR Hereditary ATTR amyloidosis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Amyloidosis (TTR full sanger exon sequencing) TTR Hereditary ATTR amyloidosis, ATTRV30M amyloidosis, ATTRV122I amyloidosis Centre de Génétique Humaine - CHU Sart-Tilman
Amyloidosis hereditary / Dystransthyretinemic hyperthyroxinemia TTR ATTRV30M amyloidosis, ATTRV122I amyloidosis, Hereditary ATTR amyloidosis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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