Wilson’s disease (WD) is a rare genetic disorder caused by a defect in the ATP7B gene characterized by excessive deposition of copper in the liver, brain, and other tissues. In order to diagnose WD, molecular–genetic analysis of ATP7B gene that includes Single-Strand Conformation Polymorphism (SSCP) technique and Sanger sequencing are required. The aim of this study was to present results of genetic diagnosis in Moldovan patients with WD. 40 patients suspected for WD (the presence of Kayser-Fleischer ring, unexplained liver disease and/or neurological or neuropsychiatric disorder, low serum ceruloplasmin level and high free Copper) was subjected to genetic analysis including SSCP for exons 8, 14, and 20 with a high rate of pathological mutations. Consequently, advanced genetic analysis was performed by “Sanger” genomic DNA sequencing (3500dx Genetic Analyzer, Applied Biosystems Inc.) using Big Dye Terminator 3.1 for confirmation or specification of abnormalities if they were present or to search mutations in the other exons, starting by hotspot regions (4, 8, 12, 13, 14, 15, 17 and 20 exons in ATP7B gene). During SSCP technique there have been observed abnormalities in 14 (22%) and 20 (9%) exons. Due to the fact that SSCP cannot identify the exact change, DNA sequencing was used. The results revealed the pH1069Q mutation in exon 14, being one the most frequent mutation in our cohort (11%). Other pathological variants identified in the WD group were pG1341D (3.2%) and pG1341V (1.6%) in exon 20, pH1207R (1.6%) and pA1227T (1.6%) in exon 17 of ATP7B gene. Along with these mutations, some non-pathological genetic variants have been detected in WD patients as pV456L (exon 3), pR952K (exon 12), pK832R (exon 10) and pV1140A (exon 16). The variant pR952K in exon 12 was identified in 66% of analyzed DNA samples, being the most common polymorphism. The Sanger sequencing is a powerful tool in the diagnosis of WD that allows the identification of a large spectrum of pathological and non-pathological genetic variants. The most common pathological mutation in Moldovan WD patients was pH1069Q.