Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hypochondroplasia (hot spot mutations - p.Asn540; p.Ile538; p.Lys650 FGFR3) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Gent
Hypochondroplasia (hot spot mutation - p.Asn540) FGFR3 Hypochondroplasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypochondroplasia (hot spot mutation - p.Asn540Lys) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing) FGFR3 Hypochondroplasia Centre de Génétique Humaine - Erasme ULB
Hypochondroplasia (Hotspot mutation p.(Asn540Lys)) FGFR3 Hypochondroplasia 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
Immunodeficiency - Activated PI3K-delta syndrome PIK3CD Activated PI3K-delta syndrome Centrum Menselijke Erfelijkheid - KUL
Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel) Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG Alport syndrome, Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis, Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis, Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Download XLSX
Download PDF