Genetic tests

Full name Analytes Gene panels Disease Laboratory
Leiomyomatosis and renal cell cancer FH Hereditary leiomyomatosis and renal cell cancer Centre de Génétique Médicale UCL
Gorlin syndrome (gene panel) PTCH1, PTCH2, SUFU Gorlin syndrome (3 genes) Gorlin syndrome Centre de Génétique Médicale UCL
Intellectual disability (virtual gene panel) Intellectual disability (gene panel) Centre de Génétique Médicale UCL
cleft lip with/whitout cleft palate (virtual gene panel) Cleft lip and palate / dysmorphic facial features / craniofacial anomalies (255 genes)) - UCL Cleft lip/palate Centre de Génétique Médicale UCL
Familial cancer predisposition (gene panel) Hereditary cancer predisposition - UGent Centrum Medische Genetica - UZ Gent
Colon carcinoma (hereditary/familial) (gene panel) Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB APC-related attenuated familial adenomatous polyposis, Familial adenomatous polyposis, Familial colorectal cancer Type X, Generalized juvenile polyposis/juvenile polyposis coli, Hereditary mixed polyposis syndrome, Hereditary nonpolyposis colorectal cancer, Lynch syndrome, MUTYH-related attenuated familial adenomatous polyposis Centrum Medische Genetica - UZ Brussel VUB
Intellectual Disability (gene panel) Intellectual Disability (104 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
BAP1-related tumor predisposition syndrome (TPDS) BAP1 Familial melanoma Centrum Menselijke Erfelijkheid - KUL
Lipodystrophy and/or hyperinsulinism (gene panel) Lipodystrophy and/or hyperinsulinism (30 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Inherited Kidney Diseases (Gene Panel) Panel Nephro-ULG-V1 Centre de Génétique Humaine - CHU Sart-Tilman
Silver-Russell syndrome (11p15 methylation) Centrum Menselijke Erfelijkheid - KUL
Epileptic encephalopathies (virtual gene panel) Centre de Génétique Médicale UCL
Rasopathies (virtual gene panel) Centre de Génétique Médicale UCL
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Menselijke Erfelijkheid - KUL
RASopathy (gene panel) RASopathy - KUL Noonan syndrome Centrum Menselijke Erfelijkheid - KUL
Noonan syndrome (Screening PTPN11) PTPN11 Noonan syndrome, Noonan syndrome with multiple lentigines Centrum Menselijke Erfelijkheid - KUL
Rett syndrome / MECP2 Duplication Syndrome MECP2 Rett syndrome Centrum Menselijke Erfelijkheid - KUL
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 SMN1, SMN2 Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 2, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4 Centrum Menselijke Erfelijkheid - KUL
Uniparental Disomy (UDP7; UDP11; UDP14; UDP20) 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 Centrum Menselijke Erfelijkheid - KUL
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Down syndrome, Trisomy 13, Trisomy 18 Centrum Menselijke Erfelijkheid - KUL
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