Genetic tests

Full name Analytes Gene panels Disease Laboratory
Corneal dystrophy (gene panel) Corneal dystrophy - UGent Centrum Medische Genetica - UZ Gent
Transthyretine amyloïdose TTR ATTRV30M amyloidosis, ATTRV122I amyloidosis Centrum Medische Genetica - UZ Gent
Primary ciliary dyskinesia (PCD) Heterotaxyies (gene panel) Heterotaxie PCD - UGent Centrum Medische Genetica - UZ Gent
Skeletal dysplasia (gene panel) Skeletal dysplasia - UGent Centrum Medische Genetica - UZ Gent
Nanophthalmos MFRP, PRSS56 Nanophthalmos Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16) Paternal uniparental disomy of chromosome 7, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, Temple syndrome due to maternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Maternal uniparental disomy of chromosome 16 Centrum Medische Genetica - UZ Gent
BAP1-tumor predisposition syndrome BAP1 BAP1-related tumor predisposition syndrome Centrum Medische Genetica - UZ Gent
Familial cancer predisposition (gene panel) Hereditary cancer predisposition - UGent Centrum Medische Genetica - UZ Gent
Amyotrophic Lateral Sclerosis (ALS) (gene panel) Amyotrophic Lateral Sclerosis (ALS) - UGent Amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 4 Centrum Medische Genetica - UZ Gent
Pediatric oncopredisposition (gene panel) Pediatric oncopredisposition - UGent Centrum Medische Genetica - UZ Gent
Neuropathy (gene panel) Neuropathy panel - UGent Centrum Medische Genetica - UZ Gent
Hepatology (gene panel) Hepatology panel - UGent Centrum Medische Genetica - UZ Gent
Respiratory disorders (gene panel): non-CF bronchiectasis; pulmonary hypertension; interstitial lung disease Respiratory Disorders panel (137 genes) - Ugent Centrum Medische Genetica - UZ Gent
Arrhytmogenic cardiopathy Arrhytmogenic cardiopathy - UGent Centrum Medische Genetica - UZ Gent
Dilated cardiomyopathy Dilated cardiomyopathy - UGent Centrum Medische Genetica - UZ Gent
VEXAS-syndrome UBA1 VEXAS syndrome Centrum Medische Genetica - UZ Gent
Supravalvular aortic stenosis ELN Centrum Medische Genetica - UZ Gent
Hirschsprung disease Hirschsprung disease - Ugent Hirschsprung disease Centrum Medische Genetica - UZ Gent
Small cell carcinoma of the ovary SMARCA4 Small cell carcinoma of the ovary Centrum Medische Genetica - UZ Gent
Fertilisation failure-oocyte maturation arrest-embryonic arrest (gene panel) Subfertility, infertility and gamete malfunction - UGent Centrum Medische Genetica - UZ Gent
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