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Analytes
Gene panels
Disease
Laboratory
CANVAS disease - repeat in RFC1 gene
RFC1
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Centrum Menselijke Erfelijkheid - KUL
Myeloid/lymphoid neoplasms with germline predisposition
Centre de Génétique Humaine - CHU Sart-Tilman
Erythrocytoses, polycythémies, thrombocytoses et neutropénies congénitales (gene panel)
Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Inherited Kidney Diseases (Gene Panel)
Panel Nephro-ULG-V1
Centre de Génétique Humaine - CHU Sart-Tilman
Fertilisation failure-oocyte maturation arrest-embryonic arrest (gene panel)
Subfertility, infertility and gamete malfunction - UGent
Centrum Medische Genetica - UZ Gent
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics
HLA-B
Abacavir toxicity
Centre de Génétique Humaine - CHU Sart-Tilman
TPMT*2,*3A, *3B, *3C, *3D, *4 - drug metabolism - Pharmacogenetics
TPMT
Centre de Génétique Médicale UCL
MTHFR c.677C>T et c.1298A>C -drug metabolism - Pharmacogenetics
MTHFR
Centre de Génétique Médicale UCL
Li-Fraumeni syndrome
TP53
Li-Fraumeni syndrome
Centrum Menselijke Erfelijkheid - KUL
Test Cytogenetics analysis (BCR-ABL fusion gene ((t(9;22)) / Philadelphia chromosome)
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
Amyloidosis (TTR full sanger exon sequencing)
TTR
Hereditary ATTR amyloidosis
,
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centre de Génétique Humaine - CHU Sart-Tilman
test (α-D-galactosidase)
Centre de Génétique Humaine - CHU Sart-Tilman
CYP3A5*3 genotyping - drug metabolism - Pharmacogenetics
CYP3A5
Tacrolimus dose selection
Centre de Génétique Humaine - CHU Sart-Tilman
Dilated Cardiomyopathy (Gene panel)
Dilated Cardiomyopathy (79 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Silver-Russell syndrome (11p15 methylation)
Centrum Menselijke Erfelijkheid - KUL
Epilepsy without developmental delay, familial (gene panel)
(Familial) epilepsy without developmental delay (gene panel)
Centrum Medische Genetica - UZ Antwerpen
Breast Cancer Trial
BRCA1
,
BRCA2
Centrum Menselijke Erfelijkheid - KUL
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