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5-alpha-reductase deficiency
Gene: SRD5A2
3-methylcrotonyl-CoA carboxylase deficiency 1
Gene: MCCC1
3-methylcrotonyl-CoA carboxylase deficiency 2
Gene: MCCC2
5-alpha-reductase deficiency
Gene: SRD5A2_MLPA
Aarskog syndrome
Gene: FGD1_MLPA
Wilson disease
Gene: ATP7B: His1069Gln
11-beta-hydroxysteroid dehydrogenase deficiency
Gene: HSD11B2
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
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