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Varna Medical Forum

Standard karyotyping - a look through the European guidelines

Mari Hachmeriyan, Maria Levkova, Milena Stoyanova, Valentina Miteva, Lyudmila Angelova


Standard karyotyping is a method for genetic testing for chromosomal aberrations, based on specific clinical indications. Despite the progress in the field of molecular genetic testing, it still remains the first choice for genetic testing in developing countries due to financial and economic factors. In 2019, the latest European guidelines for constitutional cytogenomic analysis were released. They include general and specific guidelines for pre-analytical recommendation, sample preparation, analysis and reporting. Possibilities, limitations and minimum requirements for specific genetic testings are listed. Following the established European guidelines for genetic analysis and/or re-contacting patients with a possible genetic diagnosis will provide up-to-date medical service. Each laboratory should apply validated protocols for testing, based on the newly introduced recommendations by leading in the field organizations.


standard karyotyping, cytogenomics, guidelines, re-contact

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