Genetics Department

Clinical genomics and genetic testing provide critical insights into an individual’s unique biological profile. This data plays an essential role in risk stratification, definitive diagnostic classification, and the formulation of targeted treatment strategies.

At Mrcheveli, genetic testing is conducted in partnership with leading, internationally accredited European reference laboratories.

Indications and Clinical Significance

Risk Assessment and Prevention: Identifying pathogenic variants associated with hereditary conditions before the onset of clinical symptoms.
Definitive Diagnosis: Establishing a molecular diagnosis in complex, rare, or diagnostically challenging clinical cases.
Precision Medicine: Pharmacogenetic profiling to predict individual therapeutic responses, optimizing drug efficacy and minimizing adverse drug reactions (ADRs).
Family Planning and Reproductive Health: Screening prospective parents to evaluate carrier status and assess recurrence risks for heritable disorders.

Genetic Specialties:

Reproductive and Prenatal Genetics

Genetic Carrier Screening for Couples: Evaluation of prospective parents prior to pregnancy to detect carrier status for recessive and X-linked hereditary disorders, reducing the risk of heritable pathologies.
Non-Invasive Prenatal Testing (NIPT): Cell-free DNA (cfDNA) screening from maternal blood to assess fetal risk for chromosomal aneuploidies, including Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome).
Newborn Screening: Early metabolic and genetic screening during the initial days of life to detect rare heritable disorders, enabling immediate clinical intervention and supporting optimal development.

Cytogenetics and Molecular Genetics

Chromosomal and Structural Analysis: Advanced diagnostic modalities, including Karyotyping and Fluorescence In Situ Hybridization (FISH), utilized for both adult constitutional studies and invasive prenatal diagnosis (amniocentesis and chorionic villus sampling) to detect structural and quantitative abnormalities.

Oncogenetics and Tumor Profiling

Hereditary Cancer Risk Assessment: Identification of germline mutations associated with hereditary cancer syndromes (including BRCA1, BRCA2, and Lynch syndrome), guiding personalized clinical surveillance and prophylactic strategies.
Somatic Tumor Molecular Profiling: Genomic analysis of tumor tissue to identify actionable alterations, helping physicians select targeted therapies and immunotherapy regimens.

Pharmacogenomics and Rare Disorders

Pharmacogenetic Profiling: Analysis of genetic variants affecting drug-metabolizing enzymes and drug transporters to assist physicians in selecting the most effective and safe medication and dosage.
Rare Disease Diagnostics: High-throughput molecular sequencing targeting undiagnosed neurodevelopmental, metabolic, and syndromic disorders.

Immunogenetics and Relationship Testing

Histocompatibility Testing (HLA Typing): High-resolution HLA typing to evaluate donor-recipient compatibility for solid organ and hematopoietic stem cell transplantation.
Relationship and DNA Testing: Confidential, high-accuracy testing for the verification of biological kinship.

The Mrcheveli Experience

Comprehensive List of Tests: Access to extensive genomic testing options, spanning targeted single-gene assays to Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS).
International Quality Standards: Specimens are processed in leading European reference centers adhering to stringent international quality management standards (ISO 15189).
Multidisciplinary Expert Collaboration: Complex genomic data is evaluated in coordination with international clinical geneticists to deliver evidence-based, clinically actionable interpretations.
Data Security and Confidentiality: Patient genomic data is managed under strict international bioinformatics privacy protocols to ensure absolute data security.