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Disease
Laboratory
Hypophosphatasia
ALPL
Adult hypophosphatasia
,
Infantile hypophosphatasia
,
Odontohypophosphatasia
,
Perinatal lethal hypophosphatasia
,
Childhood-onset hypophosphatasia
,
Prenatal benign hypophosphatasia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Temple syndrome / Kagami-Ogata Syndrome
DLK1
,
MEG3
,
RTL1
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Temple syndrome due to paternal 14q32.2 hypomethylation
,
Temple syndrome due to paternal 14q32.2 microdeletion
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
,
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Centre de Génétique Médicale UCL
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centrum Menselijke Erfelijkheid - KUL
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (Full sequencing DMD gene through Myopathy gene panel)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centre de Génétique Humaine - CHU Sart-Tilman
Adrenogenital syndrome
CYP21A2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
,
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Centrum Medische Genetica - UZ Antwerpen
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