Genetics

What Are Genes?

Genes are the fundamental units of hereditary information located within DNA molecules.
They determine an individual’s unique traits — from physical features such as eye color and height to genetic predispositions to various diseases.
Every person carries about 20,000–25,000 genes inherited from their parents.
Genes contain instructions for the production of proteins that regulate biochemical processes and maintain the body’s health and stability.

How Genetic Testing Works

Genetic testing aims to identify changes (mutations) in DNA that may be associated with diseases or inherited disorders.
The process typically includes the following stages:

1. Sample collection — using blood, saliva, or other biological material.
2. DNA extraction and preparation — the DNA is purified and prepared for analysis.
3. DNA analysis — performed using modern technologies such as Next Generation Sequencing (NGS).
4. Interpretation — a clinical geneticist evaluates the results alongside the patient’s medical history to provide recommendations for treatment or prevention.

IMC’s In-House Genetic Laboratory

The IMC laboratory is equipped with state-of-the-art technology, including next-generation DNA sequencing (NGS) systems, DNA analyzers, and automated sample preparation stations.
This allows our specialists to conduct even the most complex studies quickly and with maximum accuracy.

Our laboratory team includes experienced geneticists and molecular biologists with international certifications and extensive professional experience.
All staff members receive regular training and participate in international conferences to ensure the highest professional standards and compliance with the latest scientific advancements.

All genetic testing at IMC is conducted within the Republic of Uzbekistan, in full accordance with the national law “On State Genomic Registration” (dated October 28, 2020; effective January 1, 2023).

Key Services of the IMC Genetic Laboratory

Non-Invasive Prenatal Test (NIPT)

NIPT is a safe and highly accurate method of prenatal screening that detects chromosomal abnormalities in the fetus at early stages of pregnancy.
It requires only a blood sample from the mother, which contains fragments of fetal DNA.

The test examines all 46 chromosomes and identifies, with up to 99.9% accuracy, common genetic conditions such as Down, Edwards, and Patau syndromes, as well as Klinefelter and Turner syndromes, and other sex chromosome abnormalities.
Fetal sex can be determined as early as the 10th week of pregnancy.

IMC uses next-generation sequencing (NGS) technology.
The MyNIPT test, performed exclusively at our center, is the only NIPT in Uzbekistan and Central Asia certified to international quality standards.

Indications:

• Maternal age over 35
• Family history of genetic diseases
• Suspicious ultrasound or screening results

Preimplantation Genetic Testing (PGT)

PGT is performed within the IVF program to analyze embryos before transfer to the uterus.
It helps detect genetic abnormalities and select healthy embryos, significantly increasing the chances of a successful pregnancy.

PGT is especially recommended for:

• Families with known hereditary diseases
• Repeated failed IVF attempts
• Maternal age over 35

PGT helps prevent transmission of genetic disorders such as cystic fibrosis, beta-thalassemia, Marfan syndrome, Duchenne muscular dystrophy, hemophilia A, myotonic dystrophy, and hereditary cancer syndromes.
The procedure can also determine embryo sex in cases where sex-linked diseases are a concern.

Whole Exome Sequencing (WES)

Exome sequencing analyzes all coding regions of the human genome to identify mutations responsible for hereditary diseases.
Indications: unexplained clinical symptoms, suspected rare diseases, significant family history, or preconception evaluation.
WES provides comprehensive insights into the genetic basis of complex medical conditions.

MyScreen — Genetic Carrier Screening for Couples

The MyScreen test identifies genetic mutations responsible for hereditary diseases and determines whether both partners carry the same defective gene.
It screens for over 1,800 mutations across more than 500 genes.

If both partners are carriers of the same mutation, there is a 25% risk of having a child affected by a genetic disorder.
Indications: family planning, preventive screening, or known family cases of inherited diseases.

Amniocentesis

Amniocentesis is an invasive prenatal diagnostic procedure in which amniotic fluid is collected to analyze the fetus’s chromosomal and biochemical markers.
Indications: maternal age over 35, abnormal ultrasound findings, or family history of genetic disorders.
Amniocentesis remains one of the most accurate and informative diagnostic tools for detecting chromosomal abnormalities.

Analysis of Miscarriage (Abortive) Material

This test helps determine the genetic causes of spontaneous miscarriage.
It analyzes fetal tissue to identify chromosomal abnormalities or karyotype imbalances that often lead to pregnancy loss during the first trimester.
The results allow physicians to better plan future pregnancies and minimize the risk of recurrence.

Advantages of IMC Genetic Testing

• Own genetic laboratory:
  Equipped with advanced technology for a wide range of accurate and reliable genetic tests.
• Highly qualified specialists:
  Experienced geneticists and reproductive medicine experts who undergo continuous professional development.
• Cutting-edge technology:
  Implementation of Next Generation Sequencing (NGS) and other modern analytical methods for the highest diagnostic precision.
• Comprehensive approach:
  Genetic testing is integrated with other IMC departments, ensuring a holistic view of diagnosis and treatment.
• Personalized medicine:
  Individual diagnostic and treatment plans based on genetic data and each patient’s clinical profile.
• Confidentiality and safety:
  Full compliance with international data protection and bioethics standards.
• Compliance with Uzbekistan’s legislation:
  All tests are conducted within Uzbekistan in accordance with the Ministry of Health’s regulations, ensuring full legal and clinical safety.

Genetic Testing at IMC — Precision You Can Trust

Genetic testing plays a key role in modern medicine by helping identify and prevent hereditary diseases.
The Israeli Medical Center for Reproductive Medicine and Family Health in Tashkent offers the most advanced methods of genetic diagnostics and counseling, ensuring the highest accuracy and reliability of results.

Contact us to receive expert guidance and personalized support on your journey to better health and family wellbeing.