Infertility Genetic Panel

Today, we had the pleasure of welcoming Ms. Movluda Zokirovna, representative of the SMA UMID Foundation, to the IMC Genomics Core Laboratory. The visit brought together our team — including Dr. Yaron Goikhman, Dr. Svetlana Avdeichik, and molecular geneticist Andrei Kullyev — for a meaningful discussion about how IMC Genomics and the SMA UMID Foundation can join forces to support the people of Uzbekistan in the prevention, early diagnosis, and management of Spinal Muscular Atrophy.

Spinal Muscular Atrophy (SMA) is a devastating yet increasingly preventable genetic disease that affects motor neurons, leading to progressive muscle weakness and, in its most severe form, early childhood mortality. Through carrier screening, preimplantation genetic testing, and AI-based genomic interpretation, at-risk families can be identified early — before the disease manifests — giving them the information and options they need to make informed reproductive decisions.

Our laboratory currently offers comprehensive SMA carrier screening using quantitative PCR and next-generation sequencing approaches, capable of detecting both deletion carriers and the more challenging "2+0" carrier configurations that standard screening can miss. With the addition of our Illumina NextSeq 2000 platform, we can now process larger panels that include SMA alongside hundreds of other recessive conditions in a single test.

The collaboration with the SMA UMID Foundation represents an important bridge between advanced molecular diagnostics and community-level public health. While our laboratory provides the testing technology and clinical expertise, the Foundation brings grassroots awareness, patient advocacy, and the trust of affected families across Uzbekistan.

With Thermo Fisher Scientific support, this initiative aims to implement molecular diagnostic technologies and AI-powered analysis systems to make genetic testing faster, safer, and more accessible across Uzbekistan. By combining state-of-the-art sequencing infrastructure with machine learning–assisted variant interpretation, we can reduce turnaround times and improve the accuracy of results for underrepresented Central Asian populations.

This partnership represents an important step toward a shared vision — a future where no child suffers from a preventable genetic disease. We look forward to working together to expand carrier screening access, support affected families, and build awareness about the power of preventive genetics in Uzbekistan and the wider region.