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Analytes
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Disease
Laboratory
Susceptibility to pancreatitis induced by thiopurine immunosuppressants
Azathioprine or 6-mercatopurine toxicity or dose selection
Centre de Génétique Humaine - CHU Sart-Tilman
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics
HLA-B
Abacavir toxicity
Centre de Génétique Humaine - CHU Sart-Tilman
Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms
APOE
Alzheimer disease (NON RARE IN EUROPE)
Centre de Génétique Humaine - CHU Sart-Tilman
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
Yq11
Partial chromosome Y deletion
Centre de Génétique Humaine - CHU Sart-Tilman
Cystic Fibrosis / related disorders (50 hot spot mutations)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Idiopathic bronchiectasis
,
Hereditary chronic pancreatitis
Centre de Génétique Humaine - CHU Sart-Tilman
Cystic Fibrosis and related disorders (TG repeat intron 8)
CFTR
Cystic fibrosis
Centre de Génétique Humaine - CHU Sart-Tilman
Recessive nonsyndromic hearing loss and deafness (2 genes)
GJB2
,
GJB6
Non syndromic hearing loss and deafness (2 genes) - IPG - ULG
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique Humaine - CHU Sart-Tilman
Fragile X syndrome and fragile X-associated disorders (FXTAS, FXPOI)
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique Humaine - CHU Sart-Tilman
Friedreich ataxia - GAA repeat expansion
FXN
Friedreich ataxia
Centre de Génétique Humaine - CHU Sart-Tilman
Hemochromatosis hereditary type 1 (HFE gene - hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centre de Génétique Humaine - CHU Sart-Tilman
Huntington disease - CAG repeat expansion
HTT
Huntington disease
Centre de Génétique Humaine - CHU Sart-Tilman
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Steinert myotonic dystrophy - CTG repeat expansion
DMPK
Steinert myotonic dystrophy
Centre de Génétique Humaine - CHU Sart-Tilman
Gilbert disease / Irinotecan sensitivity / Raltegravir toxicity - Pharmacogenetics
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
Centre de Génétique Humaine - CHU Sart-Tilman
Dihydropyrimidine dehydrogenase deficiency (5-fluorouracil (5-FU) toxicity) - Pharmacogenetics
DPYD
5-fluorouracil toxicity
,
Dihydropyrimidine dehydrogenase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Sex determining region (absence/presence)
SRY
Centre de Génétique Humaine - CHU Sart-Tilman
Microsatellites instability analysis- MMR genes
MLH1
,
MSH2
,
MSH6
,
PMS2
Lynch syndrome
,
Constitutional mismatch repair deficiency syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
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