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Steinert myotonic dystrophy - CTG repeat expansion
DMPK
Steinert myotonic dystrophy
Centrum Menselijke Erfelijkheid - KUL
Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat)
FRG1
Facioscapulohumeral dystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Fragile X syndrome/POF/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Fukuyama congenital muscular dystrophy
FKTN
Congenital muscular dystrophy, Fukuyama type
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Myoclonic epilepsy of Unverricht and Lundborg / Progressive myoclonus epilepsy /Baltic myoclonic epilepsy
CSTB
Progressive myoclonic epilepsy type 1
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Steinert myotonic dystrophy - CTG repeat expansion
DMPK
Steinert myotonic dystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Chronic progressive external ophthalmoplegia (CPEO) (Full sequencing of mtDNA genome)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Centrum Medische Genetica - UZ Brussel VUB
Steinert myotonic dystrophy - DMPK gene CTG repeat expansion
DMPK
Steinert myotonic dystrophy
Centrum Medische Genetica - UZ Brussel VUB
Fragile X syndrome and fragile X-associated disorders (FXTAS, FXPOI)
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique Humaine - CHU Sart-Tilman
Leiomyomatosis and renal cell cancer
FH
Hereditary leiomyomatosis and renal cell cancer
Centre de Génétique Médicale UCL
Meningioma (gene panel)
Meningioma (3 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Kidney cancer (Renal cell carcinoma and transitional cell carcinoma (TCC) renal pelvis) (gene panel)
Kidney cancer (Transitional Cell Carcinoma (TCC)) (14 genes) - KUL
Renal cell carcinoma
Centrum Menselijke Erfelijkheid - KUL
Ichthyosis (gene panel)
Ichthyosis and erythroderma (98 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Immune deficiency with hyperIgM, type 3
CD40
Hyper-IgM syndrome type 3
Centrum Menselijke Erfelijkheid - KUL
Corneal dystrophy (gene panel)
Corneal dystrophy - UGent
Centrum Medische Genetica - UZ Gent
Gorlin syndrome (gene panel)
PTCH1
,
PTCH2
,
SUFU
Gorlin syndrome (3 genes)
Gorlin syndrome
Centre de Génétique Médicale UCL
Intellectual disability (virtual gene panel)
Intellectual disability (gene panel)
Centre de Génétique Médicale UCL
cleft lip with/whitout cleft palate (virtual gene panel)
Cleft lip and palate / dysmorphic facial features / craniofacial anomalies (255 genes)) - UCL
Cleft lip/palate
Centre de Génétique Médicale UCL
Immune deficiency, X-linked, with hyperIgM
CD40LG
X-linked hyper-IgM syndrome
Centrum Menselijke Erfelijkheid - KUL
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