Genetic tests

Full name Analytes Gene panels Disease Laboratory
Venous malformation (3 genes) TEK, GLMN Venous malformation (3 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Blue rubber bleb nevus, Mucocutaneous venous malformations, Glomuvenous malformation, Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Juvenile polyposis of infancy, Proteus syndrome, Proteus-like syndrome, Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Centre de Génétique Médicale UCL
Cowden disease / PTEN hamartoma tumor syndrome PTEN Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome Centrum Medische Genetica - UZ Gent
Cowden disease (PTEN gene) PTEN Cowden syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Creatine deficiency by Guanidinoacetate methyltransferase deficiency (2 genes) GAMT, GATM Guanidinoacetate methyltransferase deficiency, L-Arginine:glycine amidinotransferase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
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
BAP1-related tumor predisposition syndrome (TPDS) BAP1 Familial melanoma Centrum Menselijke Erfelijkheid - KUL
Hereditary Melanoma Panel (7 genes) CDKN2A, CDK4, POT1, TERT, TERF2IP, BAP1, MITF Hereditary Melanoma Panel (7 genes) - ULG Familial melanoma Centre de Génétique Humaine - CHU Sart-Tilman
Familial melanoma / Familial Atypical Multiple Mole Melanoma Syndrome, FAMMM (gene panel) Familial melanoma - UGent Familial melanoma Centrum Medische Genetica - UZ Gent
Susceptibility to Cutaneous Malignant Melanoma CDK4 Familial melanoma Centre de Génétique Humaine - CHU Sart-Tilman
Melanoma (6 genes) BAP1, CDK4, CDKN2A, MC1R, MITF, POT1 Melanoma (6 genes) - UCL Familial melanoma, MITF-related melanoma and renal cell carcinoma predisposition syndrome, Uveal melanoma, Melanoma of soft tissue Centre de Génétique Médicale UCL
Download XLSX
Download PDF