Genetic tests

Full name Analytes Gene panels Disease Laboratory
Lipodystrophy (2 genes) AGPAT2, BSCL2 Lipodystrophy (2 genes) - IPG Congenital generalized lipodystrophy, Severe neurodegenerative syndrome with lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 1 AGPAT2 Congenital generalized lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His) BSCL2 Autosomal dominant spastic paraplegia type 17, Severe neurodegenerative syndrome with lipodystrophy, Distal hereditary motor neuropathy type 5, Congenital generalized lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Immunodeficiency 30 / Susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency IL12RB1 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Centrum Menselijke Erfelijkheid - KUL
CYP2C19*2,*3,*17 genotyping - drug metabolism - Pharmacogenetics CYP2C19 Antidepressant or antipsychotic toxicity or dose selection, Resistance to clopidogrel, Voriconazole toxicity Centre de Génétique Médicale UCL
CYP2D6 genotyping (full gene sequencing + pseudogene and CNV analysis)- drug metabolism - Pharmacogenetics CYP2D6 Codeine toxicity, Resistance to tamoxifene, Antidepressant or antipsychotic toxicity or dose selection Centre de Génétique Médicale UCL
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome CXCR4 WHIM syndrome Centrum Menselijke Erfelijkheid - KUL
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