Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hypochondroplasia (hot spot mutations - p.Asn540; p.Ile538; p.Lys650 FGFR3) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Gent
Hypochondroplasia (hot spot mutation - p.Asn540) FGFR3 Hypochondroplasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypochondroplasia (hot spot mutation - p.Asn540Lys) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing) FGFR3 Hypochondroplasia Centre de Génétique Humaine - Erasme ULB
Hypochondroplasia (Hotspot mutation p.(Asn540Lys)) FGFR3 Hypochondroplasia Centre de Génétique Humaine - CHU Sart-Tilman
Kallmann syndrome (ANOS1 gene) ANOS1 Kallmann syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene) FGFR1 Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism Centre de Génétique Humaine - CHU Sart-Tilman
Enzymatic dosage MPS1/Hurler syndrome Hurler-Scheie syndrome, Hurler syndrome Centrum Medische Genetica - UZ Brussel VUB
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)
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