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Steinert myotonic dystrophy - CTG repeat expansion
DMPK
Steinert myotonic dystrophy
Centrum Menselijke Erfelijkheid - KUL
Steinert myotonic dystrophy - CTG repeat expansion
DMPK
Steinert myotonic dystrophy
Centrum Medische Genetica - UZ Gent
Steinert myotonic dystrophy - CTG repeat expansion
DMPK
Steinert myotonic dystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Steinert myotonic dystrophy - CTG repeat expansion
DMPK
Steinert myotonic dystrophy
Centrum Medische Genetica - UZ Antwerpen
Steinert myotonic dystrophy - DMPK gene CTG repeat expansion
DMPK
Steinert myotonic dystrophy
Centrum Medische Genetica - UZ Brussel VUB
Steinert myotonic dystrophy - CTG repeat expansion
DMPK
Steinert myotonic dystrophy
Centre de Génétique Humaine - CHU Sart-Tilman
Polycystic kidney disease type 1 and 2
PKD1
,
PKD2
Autosomal dominant polycystic kidney disease
,
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Centrum Medische Genetica - UZ Gent
Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel)
Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
Autosomal recessive polycystic kidney disease
,
Autosomal dominant polycystic kidney disease
,
Isolated polycystic liver disease
,
Infantile nephronophthisis
,
Juvenile nephronophthisis
,
Late-onset nephronophthisis
,
Bardet-Biedl syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Test Biochemical Genetics (Diagnosis of aminoacidopathy, organic aciduria and beta-oxydation defects (amino acids and acylcarnitines by MSMS))
SLC25A20
Carnitine-acylcarnitine translocase deficiency
Sciensano
Susceptibility to pancreatitis induced by thiopurine immunosuppressants
Azathioprine or 6-mercatopurine toxicity or dose selection
Centre de Génétique Humaine - CHU Sart-Tilman
Thiopurine S-Methyltransferase deficiency - TPMT genotyping of 3 polymorphisms - Pharmacogenetics
TPMT
Azathioprine or 6-mercatopurine toxicity or dose selection
Centrum Menselijke Erfelijkheid - KUL
TPMT and NUDT15 sequencing - Pharmacogenetics
TPMT
,
NUDT15
Cisplatin toxicity
,
Azathioprine or 6-mercatopurine toxicity or dose selection
Centre de Génétique Médicale UCL
Thiopurine S-Methyltransferase deficiency - TPMT genotyping c.238G>C (rs1800462); c.460G>A (rs1800460); c.719A>G (rs1142345)) - Pharmacogenetics
TPMT
Azathioprine or 6-mercatopurine toxicity or dose selection
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Thiopurine S-Methyltransferase deficiency - TPMT genotyping c.238G>C (rs1800462); c.460G>A (rs1800460); c.719A>G (rs1142345)) - Pharmacogenetics
TPMT
Azathioprine or 6-mercatopurine toxicity or dose selection
Centre de Génétique Humaine - Erasme ULB
Thiopurine S-Methyltransferase deficiency - TPMT genotyping - TPMT*2/ TPMT*3A/3B/3C - Pharmacogenetics
TPMT
Azathioprine or 6-mercatopurine toxicity or dose selection
Centre de Génétique Humaine - CHU Sart-Tilman
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