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Fructose intolerance
Gene: ALDOB: del4E4, Ala149Pro, Ala174Asp, Asn334Lys
Gilbert syndrome
Gene: UGT1A1: enhancer (-3279T>G), promoter (A(TA)nTAA)
Hereditary Haemochromatosis
Gene: HFE: His63Asp, Ser65Cys, Cys282Tyr
HLA-B27
Gene: HLA-B27: presence of risk alleles
Janus kinase 2 gene
Gene: JAK2: Val617Phe
Thiopurine metabolism
Gene: TPMT: 238G>C, 460G>A, 719A>G
Celiac Disease
Gene: HLA-DQ2 and HLA-DQ8 genotyping
Apolipoprotein B
Gene: APOB: Arg3500Gln
Cystic Fibrosis
Gene: CFTR: 67 pathogenic variants detection
Apolipoprotein E
Gene: APOE: Cys112Arg, Arg158Cys
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