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Analytes
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Disease
Laboratory
Bile Acid Synthesis Congenital Defect (gene panel)
AKR1D1
,
AMACR
,
CYP7B1
,
HSD3B7
,
CYP27A1
Bile Acid Synthesis Congenital Defect (5 genes) - UCL
Congenital bile acid synthesis defect type 2
,
Congenital bile acid synthesis defect type 4
,
Cerebrotendinous xanthomatosis
,
Congenital bile acid synthesis defect type 3
,
Congenital bile acid synthesis defect type 1
Centre de Génétique Médicale UCL
Leydig cell hypoplasia or Precocious puberty, male-limited
LHCGR
Familial peripheral male-limited precocious puberty
,
Leydig cell hypoplasia due to partial LH resistance
,
Leydig cell hypoplasia due to complete LH resistance
Centre de Génétique Humaine - Erasme ULB
Hemochromatosis hereditary type 2 to type 5 (5 genes)
HAMP
,
FTH1
,
SLC40A1
,
TFR2
,
HJV
Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL
HJV or HAMP-related hemochromatosis
,
TFR2-related hemochromatosis
,
Hemochromatosis type 4
,
Hemochromatosis type 5
Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 4 (SLC40A1 gene)
SLC40A1
Hemochromatosis type 4
Centre de Génétique Humaine - CHU Sart-Tilman
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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