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Genet Mol Res. 2017 Feb 8;16(1). doi: 10.4238/gmr16019466.

Genetic tests for low- and middle-income countries: a literature review.

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MAGI non-profit Human Medical Genetics Institute, Rovereto, Italy
Department of Internal Diseases N. 1, Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
MAGI non-profit Human Medical Genetics Institute, Rovereto, Italy.
Faculty of Medicine, Catholic University "Our Lady of Good Counsel", Tirana, Albania.
Department of Medical Genetics, Erciyes University Medical School, Kayseri, Turkey.
Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy.


The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of low- or middle-income countries, which can be easily identified with simple and affordable methods. Recent information shows that although genetic diseases account for more than 10% of infant mortality in such countries, testing, counseling, and treatment of genetic diseases is not a priority. The selection criteria for the genetic tests that are discussed in this review are: i) the frequency of the genetic disease in the general population, ii) the cost and ease of execution, and iii) the report of validated methods in the literature for the diagnosis of these diseases. The goal is to promote diagnosis of genetic diseases at low-cost and with relative ease, thereby enabling appropriate treatments, reducing mortality, and preventing genetic diseases in high-risk families.

[Indexed for MEDLINE]

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