Slovenian Journal of Public Health (Oct 2020)
Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing
- Lampret Barbka Repič,
- Remec Žiga Iztok,
- Torkar Ana Drole,
- Tanšek Mojca Žerjav,
- Šmon Andraz,
- Koračin Vanesa,
- Čuk Vanja,
- Perko Daša,
- Ulaga Blanka,
- Jelovšek Ana Marija,
- Debeljak Maruša,
- Kovač Jernej,
- Battelino Tadej,
- Grošelj Urh
Affiliations
- Lampret Barbka Repič
- University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000Ljubljana, Slovenia
- Remec Žiga Iztok
- University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000Ljubljana, Slovenia
- Torkar Ana Drole
- University Medical Centre Ljubljana, University Children’s Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoričeva 20, 1000Ljubljana, Slovenia
- Tanšek Mojca Žerjav
- University Medical Centre Ljubljana, University Children’s Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoričeva 20, 1000Ljubljana, Slovenia
- Šmon Andraz
- University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000Ljubljana, Slovenia
- Koračin Vanesa
- University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000Ljubljana, Slovenia
- Čuk Vanja
- University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000Ljubljana, Slovenia
- Perko Daša
- University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000Ljubljana, Slovenia
- Ulaga Blanka
- University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000Ljubljana, Slovenia
- Jelovšek Ana Marija
- University Medical Centre Ljubljana, Zaloška cesta 2, 1000Ljubljana, Slovenia
- Debeljak Maruša
- University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000Ljubljana, Slovenia
- Kovač Jernej
- University Medical Centre Ljubljana, University Children’s Hospital, Clinical Institute for Special Laboratory Diagnostics, Vrazov trg 1, 1000Ljubljana, Slovenia
- Battelino Tadej
- University Medical Centre Ljubljana, University Children’s Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoričeva 20, 1000Ljubljana, Slovenia
- Grošelj Urh
- University Medical Centre Ljubljana, University Children’s Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoričeva 20, 1000Ljubljana, Slovenia
- DOI
- https://doi.org/10.2478/sjph-2020-0032
- Journal volume & issue
-
Vol. 59,
no. 4
pp. 256 – 263
Abstract
In the last two decades, the introduction of tandem mass spectrometry in clinical laboratories has enabled simultaneous testing of numerous acylcarnitines and amino acids from dried blood spots for detecting many aminoacidopathies, organic acidurias and fatty acid oxidation disorders. The expanded newborn screening was introduced in Slovenia in September 2018. Seventeen metabolic diseases have been added to the pre-existing screening panel for congenital hypothyroidism and phenylketonuria, and the newborn screening program was substantially reorganized and upgraded.
Keywords
- newborn screening
- nbs
- tandem mass spectrometry
- ms/ ms
- next-generation sequencing
- ngs
- inborn errors of metabolism
- iem
- presejanje novorojencev
- tandemska masna spektrometrija
- sekvenciranje nove generacije
- vrojene bolezni presnove
- iem
- nbs
- ms/ms
- ngs
