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
Vascular malformations (somatic) AKT1, AKT2, AKT3, ALK, BRAF, GNA11, GNA14, GNAQ, HRAS, IDH1, IDH2, KRAS, NRAS, PIK3CA, PIK3R1, PIK3R2, PTEN, TEK, MAP3K3, MAP2K1 Vascular malformations (somatic) (19 genes) - UCL Capillary malformation-arteriovenous malformation, CLOVES syndrome, Maffucci syndrome, Proteus syndrome Centre de Génétique Médicale UCL
Recessive nonsyndromic hearing loss and deafness DFNB (2 genes) GJB2, GJB6 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Clouston syndrome GJB6 Hidrotic ectodermal dysplasia Centrum Medische Genetica - UZ Antwerpen
Ectodermal dysplasia GJB6 Hidrotic ectodermal dysplasia Centrum Medische Genetica - UZ Antwerpen
Frequent hearing deficiency (4 genes) GJB2, GJB6, STRC, OTOA Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centre de Génétique Humaine - Erasme ULB
Recessive nonsyndromic hearing loss and deafness (2 genes) GJB2, GJB6 Non syndromic hearing loss and deafness (2 genes) - IPG - ULG Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centre de Génétique Humaine - CHU Sart-Tilman
Parathyroid tumor (gene panel) CASR, CDC73, MEN1, RET Parathyroid tumor (4 genes) - KUL Neonatal severe primary hyperparathyroidism, Familial hypocalciuric hypercalcemia type 1, Autosomal dominant hypocalcemia Centrum Menselijke Erfelijkheid - KUL
Hyperparathyroidism (gene panel) AIP, MEN1, CDKN1B, PRKAR1A, RET Familial isolated hyperparathyroidism Centre de Génétique Humaine - CHU Sart-Tilman
Multiple endocrine neoplasia type 2A and 2B / Familial medullary thyroid carcinoma RET Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A, Familial medullary thyroid carcinoma Centrum Menselijke Erfelijkheid - KUL
Paraganglioma-pheochromocytoma (gene panel) SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1 Paraganglioma-pheochromocytoma (7 genes) - KUL Hereditary pheochromocytoma-paraganglioma Centrum Menselijke Erfelijkheid - KUL
Pheochromocytoma - paraganglioma syndrome (gene panel) SDHB, SDHC, SDHD, SDHA, MAX, TMEM127, SDHAF2, VHL, RET, SUCLG2 Pheochromocytoma - paraganglioma syndrome - UGent Hereditary pheochromocytoma-paraganglioma 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 Centre de Génétique Humaine - Erasme ULB
Paraganglioma-pheochromocytoma (6 genes) - ULG RET, VHL, SDHA, SDHB, SDHC, SDHD Paraganglioma-pheochromocytoma (6 genes) - ULG Hereditary pheochromocytoma-paraganglioma, Von Hippel-Lindau disease, Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A Centre de Génétique Humaine - CHU Sart-Tilman
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
Pituitary adenoma (5 genes) AIP, CDKN1B, MEN1, RET, PRKAR1A Pituitary adenoma (5 genes) - UCL Familial isolated pituitary adenoma, Silent pituitary adenoma, Null pituitary adenoma, Prolactinoma, Pituitary gigantism, Acromegaly Centre de Génétique Médicale UCL
Medullary thyroid carcinoma RET Medullary thyroid carcinoma (3 genes) - UCL Familial medullary thyroid carcinoma Centre de Génétique Médicale UCL
Multiple endocrine neoplasia (3 genes) CDKN1B, MEN1, RET Multiple endocrine neoplasia (3 genes) - UCL Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 4 Centre de Génétique Médicale UCL
Hirschsprung disease RET Hirschsprung disease Centrum Menselijke Erfelijkheid - KUL
Hirschsprung disease RET Hirschsprung disease Centre de Génétique Médicale UCL
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