Genetic tests

Full name Analytes Gene panels Disease Laboratory
Bile Acid Synthesis Congenital Defect (gene panel) AKR1D1, AMACR, CYP7B1, HSD3B7, CYP27A1 Bile Acid Synthesis Congenital Defect (5 genes) - UCL Congenital bile acid synthesis defect type 2, Congenital bile acid synthesis defect type 4, Cerebrotendinous xanthomatosis, Congenital bile acid synthesis defect type 3, Congenital bile acid synthesis defect type 1 Centre de Génétique Médicale UCL
Azoo-oligospermia (microdeletion of 3' regions of Y chromosome AZF a, b and c) Yq11 Partial chromosome Y deletion Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c ) Yq11 Partial chromosome Y deletion Centre de Génétique Médicale UCL
Male infertility Yq11, CFTR, USP9Y Partial chromosome Y deletion, Congenital bilateral absence of vas deferens Centre de Génétique Médicale UCL
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c ) Yq11 Partial chromosome Y deletion Centrum Medische Genetica - UZ Gent
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c ) Yq11 Partial chromosome Y deletion Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c) Yq11 Partial chromosome Y deletion Centrum Medische Genetica - UZ Antwerpen
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c) Yq11 Partial chromosome Y deletion Centrum Menselijke Erfelijkheid - KUL
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c) Yq11 Partial chromosome Y deletion Centre de Génétique Humaine - Erasme ULB
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c) Yq11 Partial chromosome Y deletion Centrum Medische Genetica - UZ Brussel VUB
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c) Yq11 Partial chromosome Y deletion Centre de Génétique Humaine - CHU Sart-Tilman
Carnitine Palmitoyltransferase type II CPT2 Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II CPT2 Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250 in FGFR3 gene ) FGFR3 Muenke syndrome Centrum Medische Genetica - UZ Gent
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg) FGFR3 Muenke syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg) FGFR3 Muenke syndrome Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Muenke syndrome (hot spot mutation - p.Pro250Arg) FGFR3 Muenke syndrome Centre de Génétique Humaine - CHU Sart-Tilman
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