Genetic tests

Full name Analytes Gene panels Disease Laboratory
Nijmegen breakage syndrome NBN Nijmegen breakage syndrome Centrum Medische Genetica - UZ Gent
Occipital horn syndrome / Distal Spinal Muscular atrophy ATP7A Occipital horn syndrome, X-linked distal spinal muscular atrophy type 3 Centrum Medische Genetica - UZ Gent
Occult macular dystrophy RP1L1 Occult macular dystrophy Centrum Medische Genetica - UZ Gent
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
Somatic analysis of the BRCA genes in the context of ovarian cancer treatment (2 genes) BRCA1, BRCA2 Centrum Medische Genetica - UZ Gent
Pancreatitis, hereditary (2 genes) PRSS1, SPINK1 Hereditary chronic pancreatitis Centrum Medische Genetica - UZ Gent
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
Paroxysmal Episodic Disorders (gene panel) Paroxysmal Episodic disorders - UGent Centrum Medische Genetica - UZ Gent
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics HLA-B Abacavir toxicity Centrum Medische Genetica - UZ Gent
Polycystic kidney disease type 1 and 2 PKD1, PKD2 Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Centrum Medische Genetica - UZ Gent
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity COL4A1, COL4A2 Familial porencephaly, HANAC syndrome, Retinal arterial tortuosity Centrum Medische Genetica - UZ Gent
Primary immune deficiencies (gene panel) Primary immune deficiencies - UGent Centrum Medische Genetica - UZ Gent
Progressive Myoclonic Epilepsy (PME) (gene panel) Progressive Myoclonic Epilepsy - UGent Centrum Medische Genetica - UZ Gent
Prostate cancer (gene panel) Prostate cancer - UGent Familial prostate cancer Centrum Medische Genetica - UZ Gent
Protein S deficiency PROS1 Severe hereditary thrombophilia due to congenital protein S deficiency Centrum Medische Genetica - UZ Gent
Pseudoxanthoma Elasticum Pseudoxanthoma Elasticum - UGent Pseudoxanthoma elasticum Centrum Medische Genetica - UZ Gent
Pseudoxanthoma Elasticum with clotting deficiency GGCX Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Hereditary combined deficiency of vitamin K-dependent clotting factors Centrum Medische Genetica - UZ Gent
Retinal dystrophy / RETNET (gene panel) Retinal dystrophy - UGent Centrum Medische Genetica - UZ Gent
Retinitis pigmentosa, X-Linked Retinitis pigmentosa, X-linked - UGent Centrum Medische Genetica - UZ Gent
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