Genome Diagnostics Laboratory

Our Mission

The mission of the Genome Diagnostics Laboratory is to develop and offer Bulgarian citizens the most modern, reliable and affordable genetic and genomic analysis, shortening the path to a proper genetic diagnosis and an adequate treatment for each patient.


The Genome Diagnostics Laboratory was established at the Molecular Medicine Center of Department of medical chemistry and biochemistry, Medical Faculty, Medical University - Sofia and registered in 2015 in Regional Health Inspectorate.

This is the only university diagnostic genomic laboratory in Bulgaria, offering the full range of genetic and genomic research, with the most modern equipment for complete genomic analysis of the Center for Molecular Medicine, MU-Sofia.

Medical Specialty

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Learn more about the methods offered by LGD

Direct sequencing (Sanger Sequencing) method

a method of direct reading of the DNA sequence of all coding exons and exonic/intronic boundaries of a particular gene, associated with the disease. In this method, the nucleotide sequence of a DNA fragment is determined using automatic sequencers. The separation of the DNA fragments is performed using capillary electrophoresis.  Each of the four nucleotides is marked with four different fluorescent dyes, which, after laser irradiation, emit light of different wavelengths. This light subsequently is detected by a camera and transformed by specialized software into an electropherogram. The sensitivity of Sanger Sequencing is 99,5%.

Next-Generation Sequencing – (NGS)

massive simultaneous parallel sequencing of plenty of genes, all genes in the individual (exome) or whole genome (whole DNA, which includes all genes plus the noncoding DNA sequences). Depending on the specifics and scope of the analysis Laboratory of Genomic Diagnostics offers two platforms of NGS sequencing with two different mechanisms of sequencing – Miseq (Illumina) and Ion Torrent PGM (Life Technologies).

Chromosomal microarray analysis (aCGH)

The laboratory performs genomic high-sensitivity microarray analysis, which uses comparative genomic hybridization (CGH) to detect specific genomic abnormalities (Copy Number Variations (CNVs), deletions/duplications) associated with a particular disease. The technology offers significantly higher resolution than standard cytogenetic techniques, as well as analysis of the whole genome within a single experiment, unlike other methods (such as MLPA analysis).

Multiplex ligation-dependent probe amplification (MLPA)

Semi-quantitative method for determining the number of copies in up to 60 DNA sequences in multiplex-based PCR. The technique is used to detect deletions and/or duplications in a single disease-associated gene or in several chromosomal regions related to known microdeletion/ duplication syndromes. The sensitivity of the method is 90%.

Modification of the method is methylation-specific MLPA, in which, in addition to deletions/ duplication analysis in a certain chromosome region, the degree of methylation of the genes located in it is also determined.

High Resolution Melting - HRM analysis

HRM is a highly efficient and rapid method for detecting point mutations, polymorphisms, and epigenetic changes in the double-stranded structure of DNA. Тhe laboratory offers a pharmacogenetic HRM determination of genetic variants in genes encoding enzymes, associated with the absorption of certain drugs and optimization of drug therapy according to individual genetic characteristics.