Genetic tests

Full name Analytes Gene panels Disease Laboratory
Polyarteritis nodosa, childhood-onset / Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome ADA2 Vasculitis due to ADA2 deficiency, Diamond-Blackfan anemia, Sneddon syndrome Centrum Menselijke Erfelijkheid - KUL
Combined pituitary hormone deficiency 1 (CPHD - POU1F1 gene) POU1F1 Combined pituitary hormone deficiencies, genetic forms Centrum Medische Genetica - UZ Brussel VUB
Alport autosomal recessive and X-linked and hematuria (3 genes) COL4A3, COL4A4, COL4A5 Alport (X-linked and recessive) (3 genes) - IPG Autosomal recessive Alport syndrome, X-linked Alport syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
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 Medische Genetica - UZ Gent
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 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Centrum Medische Genetica - UZ Brussel VUB
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