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Analytes
Gene panels
Disease
Laboratory
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
Maffucci syndrome (gene panel)
Maffucci syndrome (65 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Overgrowth & vascular anomalies (gene panel)
Overgrowth & vascular anomalies (65 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Sturge-Weber syndrome (gene panel)
Sturge-Weber syndrome (65 genes) - KUL
Sturge-Weber syndrome
Centrum Menselijke Erfelijkheid - KUL
Becker nevus
ACTB
Becker nevus syndrome
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 - UCL
Centre de Génétique Médicale UCL
Epileptic encephalopathies (virtual gene panel)
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
Rasopathies (virtual gene panel)
Centre de Génétique Médicale UCL
Myopia (early onset high myopia) (gene panel)
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
Amyotrophic lateral sclerosis (ALS) / Frontotemporal demention (FTD) - GGGGCC repeat expansion in C9ORF72
C9ORF72
Amyotrophic lateral sclerosis type 4
,
Frontotemporal dementia with motor neuron disease
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) - UZ Gent
Centrum Medische Genetica - UZ Gent
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