Genetic tests

Full name Analytes Gene panels Disease Laboratory
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)
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XX testicular difference of sex development, 46,XY complete gonadal dysgenesis, 46,XY partial gonadal dysgenesis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 SMN1, SMN2 Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 2, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4 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 Centre de Génétique Humaine - Erasme ULB
Frequent hearing deficiency (4 genes) GJB2, GJB6, STRC, OTOA Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centre de Génétique Humaine - Erasme ULB
Pancreatitis, hereditary (7 genes) CASR, CFTR, CLDN2, CPA1, CTRC, PRSS1, SPINK1 Pancreatitis (7 genes) - ULB Hereditary chronic pancreatitis 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
Frontotemporal lobar degeneration/ Amyotrophy Lateral Sclerosis (gene panel) Frontotemporal lobar degeneration / Amyotrophy Lateral Sclerosis (4 genes) - KUL Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis Centrum Menselijke Erfelijkheid - KUL
Hemophilia A F8 Hemophilia A, Mild hemophilia A, Severe hemophilia A, Moderate hemophilia A, Bleeding disorder in hemophilia A carriers Centrum Menselijke Erfelijkheid - KUL
Sex determining region (absence/presence) SRY Centre de Génétique Humaine - CHU Sart-Tilman
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