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WAGR Syndrome
WT1
WAGR syndrome
Centrum Menselijke Erfelijkheid - KUL
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
Gaucher disease diagnostic (GBA gene sequencing)
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher 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
Transthyretine amyloïdose
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centrum Medische Genetica - UZ Gent
Amyloidosis (TTR full sanger exon sequencing)
TTR
Hereditary ATTR amyloidosis
,
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centre de Génétique Humaine - CHU Sart-Tilman
Amyloidosis hereditary / Dystransthyretinemic hyperthyroxinemia
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
,
Hereditary ATTR amyloidosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Amyloidosis (full sanger screening of the 4 exons for TTR)
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centrum Menselijke Erfelijkheid - KUL
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