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Sciensano
Test Biochemical Genetics (Diagnosis of aminoacidopathy, organic aciduria and beta-oxydation defects (amino acids and acylcarnitines by MSMS))
SLC25A20
Carnitine-acylcarnitine translocase deficiency
Sciensano
Mental retardation, X-linked, syndromic, Borck type
EIF2S3
MEHMO syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Septo-optic dysplasia
HESX1
Septo-optic dysplasia spectrum
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Enzymatic dosage Chitotriosidase
Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Fabry disease
Fabry disease
Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Gaucher disease
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage MPS1/Hurler syndrome
Hurler-Scheie syndrome
,
Hurler syndrome
Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Pompe disease
Glycogen storage disease due to acid maltase deficiency
,
Glycogen storage disease due to acid maltase deficiency, infantile onset
,
Glycogen storage disease due to acid maltase deficiency, late-onset
Centrum Medische Genetica - UZ Brussel VUB
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
Hereditary Spastic Paraplegia (gene panel)
Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
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