Founding Clinical Partner
About CellGenetics
CellGenetics is the first and only genetic laboratory in Bulgaria specializing in advanced analysis and interpretation of whole-genome sequencing data. The laboratory provides comprehensive genetic diagnostics across the full spectrum of clinical genetics, from rare disease investigation to oncology, cardiology, neurology, reproductive health, and pharmacogenomics.
Established as a clinical-grade genetic and medical-diagnostic laboratory, CellGenetics combines bioinformatic expertise with board-certified clinical interpretation. The laboratory operates from three locations across Bulgaria, providing unified national infrastructure for sample collection and processing.
Clinical Domains
CellGenetics covers seventeen clinical domains in genetic diagnostics through whole-genome sequencing and targeted panels.
Team
The CellGenetics team includes physicians board-certified in medical genetics, with extensive experience in counseling families affected by rare diseases, and molecular geneticists specialized in bioinformatic analysis of whole-genome sequencing data.
The laboratory has contributed to peer-reviewed international publications, including the identification of novel genetic findings in Bulgarian patients.
Nationwide Coverage
CellGenetics operates from three locations — Sofia, Plovdiv, and Varna — with a unified national infrastructure for sample collection and processing.
Sofia
Headquarters
15 Tsar Petar Street
Plovdiv
Regional office
5 Sredets Street, floor 2, office 1
Varna
Regional office
3 Dospat Street
Standards & Methodology
Validation of Helena is conducted in accordance with international standards. CellGenetics' clinical reports, signed by the laboratory's board-certified medical geneticists and molecular geneticists, serve as the reference standard for every validation cohort.
ISO 15189:2022
Medical Laboratory Quality Management
International standard for quality and competence of medical laboratories. Defines requirements for quality management systems, examination procedures, and result reporting in clinical diagnostic settings.
EU IVDR (2017/746)
In Vitro Diagnostic Regulation
European Union regulation governing the safety, performance, and clinical evidence requirements for in vitro diagnostic medical devices. Applies to laboratory-developed tests and bioinformatics pipelines used in clinical diagnostics.
AMP/CAP (2018)
Bioinformatics Pipeline Validation
Joint Association for Molecular Pathology and College of American Pathologists guidelines for validating clinical next-generation sequencing bioinformatics pipelines, covering analytical validation, performance characteristics, and continuous quality monitoring.
ACMG/AMP (2015)
Sequence Variant Interpretation
Standards and Guidelines for the Interpretation of Sequence Variants from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. The framework Helena automates with the Bayesian point system (Tavtigian et al. 2018) and ClinGen SVI calibrated thresholds (Pejaver et al. 2022).
Clinical Validation
Validation in progress
Validation cohorts are running with CellGenetics as the reference standard. Cases are selected from the laboratory's patient registry to maximize coverage across clinical domains, variant types, zygosity categories, and complexity levels. All concordance criteria and acceptance thresholds are defined before processing begins.
Detailed validation results will be published here upon completion and clinical partner approval.
Contact
CellGenetics
Helena partnership inquiries
For partnership inquiries with Helena Bioinformatics, please contact us directly.
Contact Helena