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Wilson disease
Gene: ATP7B: His1069Gln
Primary immunodeficiency (TREC/KREC) - AVAILABLE ONLY FOR SELF-PAYERS
Gene: TREC, KREC
Spinal muscular atrophy qPCR - AVAILABLE ONLY FOR SELF-PAYERS
Gene: SMN1: exon 7
Warfarin metabolism
Gene: CYP2C9: 430C>T, 1075A>C; VKORC1: -1639G>A
HLA-B27
Gene: HLA-B27: presence of risk alleles
Janus kinase 2 gene
Gene: JAK2: Val617Phe
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
Thiopurine metabolism
Gene: TPMT: 238G>C, 460G>A, 719A>G
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