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Analytes
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Disease
Laboratory
Multiple epiphyseal dysplasia
COL2A1
,
SLC26A2
Multiple epiphyseal dysplasia type 4
Centrum Medische Genetica - UZ Gent
Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centre de Génétique Médicale UCL
Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centrum Menselijke Erfelijkheid - KUL
Craniosynostosis syndrome (hot spot mutation - p.Pro252Arg)
FGFR1
Pfeiffer syndrome type 1
Centrum Medische Genetica - UZ Antwerpen
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene)
FGFR1
Kallmann syndrome
,
Normosmic congenital hypogonadotropic hypogonadism
Centre de Génétique Humaine - CHU Sart-Tilman
Retinoblastoma
RB1
Hereditary retinoblastoma
,
Non-hereditary retinoblastoma
Centrum Menselijke Erfelijkheid - KUL
Retinoblastoma
RB1
Hereditary retinoblastoma
,
Non-hereditary retinoblastoma
Centre de Génétique Médicale UCL
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