BACKGROUND AND OBJECTIVES: Sample mix-ups are a threat to the validity of clinical laboratory test results. To detect serum sample mix-ups we developed a single nucleotide polymorphism (SNP) profiling test. SNPs are frequent sequence variations in the human genome. Each individual has a unique combination of these nucleotide variations. MATERIALS AND METHODS: Predeveloped SNP amplification assays are commercially available. We recently discovered that these SNP assays could be applied to serological samples, which is not self-evident because a key step in serum preparation is removal of white blood cells, the major source of DNA, from blood. DNA was extracted from serum samples. Real-time polymerase chain reaction (PCR) analysis of the purified DNA using a selection of 10 SNP assays provided SNP profiles. RESULTS: The applicability of the SNP profiling test was demonstrated by means of a case where hepatitis E virus serological determinations of four serum samples of one patient seemed inconsistent. SNP profiling of the samples demonstrated that this was due to the enzyme-linked immunosorbent assay test instead of sample mix-up. CONCLUSION: We have developed an SNP profiling assay that provides a way to link human serum samples to a source, without post-PCR processing. The chance for two randomly chosen individuals to have an identical profile is 1 in 18 000. Solving potential serum sample mix-ups will secure downstream evaluations and critical decisions concerning the patients involved.
BACKGROUND AND OBJECTIVES: Sample mix-ups are a threat to the validity of clinical laboratory test results. To detect serum sample mix-ups we developed a single nucleotide polymorphism (SNP) profiling test. SNPs are frequent sequence variations in the human genome. Each individual has a unique combination of these nucleotide variations. MATERIALS AND METHODS: Predeveloped SNP amplification assays are commercially available. We recently discovered that these SNP assays could be applied to serological samples, which is not self-evident because a key step in serum preparation is removal of white blood cells, the major source of DNA, from blood. DNA was extracted from serum samples. Real-time polymerase chain reaction (PCR) analysis of the purified DNA using a selection of 10 SNP assays provided SNP profiles. RESULTS: The applicability of the SNP profiling test was demonstrated by means of a case where hepatitis E virus serological determinations of four serum samples of one patient seemed inconsistent. SNP profiling of the samples demonstrated that this was due to the enzyme-linked immunosorbent assay test instead of sample mix-up. CONCLUSION: We have developed an SNP profiling assay that provides a way to link human serum samples to a source, without post-PCR processing. The chance for two randomly chosen individuals to have an identical profile is 1 in 18 000. Solving potential serum sample mix-ups will secure downstream evaluations and critical decisions concerning the patients involved.
Authors: Karl W Broman; Mark P Keller; Aimee Teo Broman; Christina Kendziorski; Brian S Yandell; Śaunak Sen; Alan D Attie Journal: G3 (Bethesda) Date: 2015-08-19 Impact factor: 3.154
Authors: Jörg Peter; Wilfried Klingert; Kathrin Klingert; Karolin Thiel; Daniel Wulff; Alfred Königsrainer; Wolfgang Rosenstiel; Martin Schenk Journal: World J Crit Care Med Date: 2017-08-04