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Analytes
Gene panels
Disease
Laboratory
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 (95 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 and 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
Hereditary Spastic Paraplegia (gene panel)
Hereditary Spastic Paraplegia (89 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
Myopathy (gene panel)
Myopathy (179 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
Peripheral neuropathy (gene panel)
Neuropathy (>110 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
Transthyretine amyloïdose
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centrum Medische Genetica - UZ Gent
Child Interstitial Lung Disease (child - gene panel)
chILD (27 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Primary ciliary dyskinesia (PCD) Heterotaxyies (gene panel)
Heterotaxie PCD - UGent
Centrum Medische Genetica - UZ Gent
Skeletal dysplasia (gene panel)
Skeletal dysplasia - UGent
Centrum Medische Genetica - UZ Gent
Nanophthalmos
MFRP
,
PRSS56
Nanophthalmos
Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16)
Paternal uniparental disomy of chromosome 7
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
,
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
,
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
,
Maternal uniparental disomy of chromosome 16
Centrum Medische Genetica - UZ Gent
Immunodeficiency - Activated PI3K-delta syndrome
PIK3CD
Activated PI3K-delta syndrome
Centrum Menselijke Erfelijkheid - KUL
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