{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Dusatkova P"],"funding":["Ministerstvo Zdravotnictví Ceské Republiky"],"pagination":["1169-1178"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9219402"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["59(9)"],"pubmed_abstract":["<h4>Aims</h4>Correct genetic diagnosis of maturity-onset diabetes of the young (MODY) is beneficial for person's diabetes management compared to no genetic testing. Aim of the present study was a search for optimal time- and cost-saving strategies by comparing two approaches of genetic testing of participants with clinical suspicion of MODY.<h4>Methods</h4>A total of 121 consecutive probands referred for suspicion of MODY (Group A) were screened using targeted NGS (tNGS), while the other 112 consecutive probands (Group B) underwent a single gene test based on phenotype, and in cases of negative findings, tNGS was conducted. The study was performed in two subsequent years. The genetic results, time until reporting of the final results and financial expenses were compared between the groups."],"journal":["Acta diabetologica"],"pubmed_title":["Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young."],"pmcid":["PMC9219402"],"funding_grant_id":["NV18-01-00078"],"pubmed_authors":["Lebl J","Pavlikova M","Larionov V","Sumnik Z","Pruhova S","Elblova L","Dusatkova P","Vesela K","Kolarova K"],"additional_accession":[]},"is_claimable":false,"name":"Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.","description":"<h4>Aims</h4>Correct genetic diagnosis of maturity-onset diabetes of the young (MODY) is beneficial for person's diabetes management compared to no genetic testing. Aim of the present study was a search for optimal time- and cost-saving strategies by comparing two approaches of genetic testing of participants with clinical suspicion of MODY.<h4>Methods</h4>A total of 121 consecutive probands referred for suspicion of MODY (Group A) were screened using targeted NGS (tNGS), while the other 112 consecutive probands (Group B) underwent a single gene test based on phenotype, and in cases of negative findings, tNGS was conducted. The study was performed in two subsequent years. The genetic results, time until reporting of the final results and financial expenses were compared between the groups.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2026-05-09T18:53:57.058Z","creation":"2025-04-05T20:38:51.763Z"},"accession":"S-EPMC9219402","cross_references":{"pubmed":["35737141"],"doi":["10.1007/s00592-022-01915-x"]}}