Review article

https://doi.org/10.21860/medflum2021_365337

Genetic testing of recessive gene disorders: from diagnostic testing to the contemporary expanded genomic carrier screening

Ema Dejhalla orcid.org/0000-0003-0873-1257 ; Centar za genetičku edukaciju i Zavod za medicinsku biologiju i genetiku, Sveučilište u Rijeci, Medicinski fakultet, Rijeka, Hrvatska
Nina Pereza ; Centar za genetičku edukaciju i Zavod za medicinsku biologiju i genetiku, Sveučilište u Rijeci, Medicinski fakultet, Rijeka, Hrvatska
Saša Ostojić ; Centar za genetičku edukaciju i Zavod za medicinsku biologiju i genetiku, Sveučilište u Rijeci, Medicinski fakultet, Rijeka, Hrvatska
Borut Peterlin ; Klinički institut za genomsku medicinu, Klinički centar Ljubljana, Ljubljana, Slovenija
Sanja Dević Pavlić orcid.org/0000-0001-8440-1722 ; Centar za genetičku edukaciju i Zavod za medicinsku biologiju i genetiku, Sveučilište u Rijeci, Medicinski fakultet, Rijeka, Hrvatska

Abstract

Timely diagnosis of recessive single-gene diseases in patients is of the utmost importance for the implementation of the available methods of disease prevention or specific symptomatic therapy when the disease has already developed. Furthermore, an important link in the prevention and monitoring of the likelihood of appearance of recessive monogenic diseases are various possibilities of genetic testing that can detect carriers, who are most often healthy individuals but can transmit the genetic change to offspring. This review article presents the latest findings related to the definition, frequency, and diagnosis of recessive monogenic diseases, including diagnostic genetic testing, carrier testing, population screening, and extended genomic carrier screening.

Keywords

genetic carrier screening; genetic testing; recessive genetic conditions

Hrčak ID:

251271

URI

https://hrcak.srce.hr/251271

Publication date:

1.3.2021.

Article data in other languages: croatian

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