Illumina Laboratory Services has begun providing clinical whole‑genome sequencing and interpretation services to the Diagnostic Lab at the Florida Institute for Pediatric Rare Diseases (IPRD) at Florida State University. The partnership gives IPRD access to Illumina’s high‑throughput sequencing platform and expert data analysis, enabling faster, more accurate diagnoses for patients with rare genetic disorders.
The deal expands Illumina’s presence in the rapidly growing rare‑disease diagnostics market, which is projected to reach $3.84 billion by 2033 from $1.15 billion in 2024, a CAGR of 14.3%. Rare diseases affect an estimated 15 million American children and 30 million people across the United States, making the market a significant contributor to Illumina’s clinical revenue stream.
Illumina’s recent product launches, including the TruPath Genome platform and updates to the NovaSeq X Series roadmap, have positioned the company to deliver higher accuracy and throughput for rare‑disease testing. The partnership with IPRD aligns with Illumina’s broader strategy of deepening clinical adoption of its sequencing technology and expanding its service portfolio beyond research.
"An estimated 30 million people across the country are living with a rare disease today and clinical whole‑genome testing provides a transformative opportunity to end the diagnostic odyssey for patients," said Eric Green, Chief Medical Officer of Illumina. "Our colleagues at IPRD will now be equipped to break diagnostic barriers, and we are proud to help them accelerate making life‑saving discoveries.","The collaboration also reflects Illumina’s focus on oncology, reproductive health, and rare disease, with the company’s clinical consumables revenue growing 20 % ex‑China in Q4 FY2025. The partnership is expected to strengthen Illumina’s clinical pipeline and position the company to capture additional market share in the U.S. rare‑disease testing space."]
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