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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 (100 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
Hereditary Spastic Paraplegia (gene panel)
Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Myopathy (gene panel)
Myopathy (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Peripheral neuropathy (gene panel)
Neuropathy (genepanel) - 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 (35 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
Immunodeficiency - Activated PI3K-delta syndrome
PIK3CD
Activated PI3K-delta syndrome
Centrum Menselijke Erfelijkheid - KUL
BAP1-tumor predisposition syndrome
BAP1
BAP1-related tumor predisposition syndrome
Centrum Medische Genetica - UZ Gent
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