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Genetic tests
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Analytes
Gene panels
Disease
Laboratory
Fertilisation failure-oocyte maturation arrest-embryonic arrest (gene panel)
Subfertility, infertility and gamete malfunction - UGent
Centrum Medische Genetica - UZ Gent
Li-Fraumeni syndrome
TP53
Li-Fraumeni syndrome
Centrum Menselijke Erfelijkheid - KUL
Amyloidosis (TTR full sanger exon sequencing)
TTR
Hereditary ATTR amyloidosis
,
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
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)
Breast Cancer Trial
BRCA1
,
BRCA2
Centrum Menselijke Erfelijkheid - KUL
Lymphoproliferative syndrome, X-linked (SH2D1A gene) / Duncan's disease
SH2D1A
X-linked lymphoproliferative disease
,
X-linked lymphoproliferative disease due to SH2D1A deficiency
Centrum Menselijke Erfelijkheid - KUL
End-stage renal disease, ESRD (gene panel)
End-stage renal disease (106 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Nephrocalcinosis and nephrolithiasis (gene panel)
Nephrocalcinosis and nephrolithiasis (37 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Parathyroid tumor (gene panel)
CASR
,
CDC73
,
MEN1
,
RET
Parathyroid tumor (4 genes) - KUL
Neonatal severe primary hyperparathyroidism
,
Familial hypocalciuric hypercalcemia type 1
,
Autosomal dominant hypocalcemia
Centrum Menselijke Erfelijkheid - KUL
Hyperparathyroidism (gene panel)
AIP
,
MEN1
,
CDKN1B
,
PRKAR1A
,
RET
Familial isolated hyperparathyroidism
Centre de Génétique Humaine - CHU Sart-Tilman
41 pharmacogenes analysis
pharmacogenes analysis
Centre de Génétique Médicale UCL
Lymphoproliferative syndrome, X-linked (XIAP gene)
XIAP
X-linked lymphoproliferative disease
,
X-linked lymphoproliferative disease due to XIAP deficiency
Centrum Menselijke Erfelijkheid - KUL
Myopia (early onset high myopia)
Myopia gene panel - UGent
Centrum Medische Genetica - UZ Gent
Premature ovarian insufficiency (POI) (gene panel – 138 genes)
Centrum Menselijke Erfelijkheid - KUL
Infertility due to oocyte maturation disorders (OMD), preimplantation embryonic lethality (PREMBL), oocyte/zygote/embryo maturation arrest (OZEMA) and/or total fertilization failure (TFF) (gene panel – 47 genes)
Centrum Menselijke Erfelijkheid - KUL
Infertility due to sperm defects (gene panel – 193 genes)
Centrum Menselijke Erfelijkheid - KUL
Craniosynostosis (gene panel)
Craniosynostosis (UZ Gent)
Centrum Medische Genetica - UZ Gent
Tuberous sclerosis
TSC1
,
TSC2
Tuberous sclerosis complex
Centrum Medische Genetica - UZ Gent
Treatable intellectual disability (tID)
Treatable intellectual disability (tID)
Centrum Medische Genetica - UZ Gent
Malignant Mesothelioma (BAP1; CDKN2A genes)
BAP1
,
CDKN2A
Centrum Menselijke Erfelijkheid - KUL
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