PacBio Supports Berry Genomics First Long-Read Approval in China

PacBio, announced that through its long-standing partnership with Berry Genomics, the Sequel II CNDx system has received Class III Medical Device Registration approval from the National Medical Products Administration (NMPA) in China.

This marks the world’s first regulatory clearance of a clinical-grade long-read sequencer, a milestone led by Berry Genomics that signals a new era for precision medicine and high-accuracy genomic testing in China.

High-incidence genetic disorders such as thalassemia often involve complex variant types that are difficult or impossible to detect using short-read sequencing.

With the Sequel II CNDx system, clinicians can now access a complete picture of the genome in a single test—capturing single nucleotide variants (SNVs), insertions and deletions (indels), copy number variants (CNVs), structural variants (SVs), and repeat expansions with exceptional accuracy.

When paired with Berry’s newly approved clinical thalassemia assay and software system, this approval delivers the first end-to-end long-read sequencing workflow for China’s hospitals and diagnostic laboratories, optimized for carrier, prenatal, newborn, and rare disease testing.

“PacBio’s mission is to enable the promise of genomics to better human health,” said Christian Henry, President and Chief Executive Officer of PacBio. “China’s regulatory approval of Sequel II CNDx reflects not only the quality and performance of HiFi sequencing, but also its readiness to improve clinical outcomes on a global stage.”

The Sequel II CNDx system leverages PacBio’s proprietary Single Molecule, Real-Time (SMRT^®) technology, the only sequencing technology capable of delivering both high accuracy and long read lengths of 20 kb and greater. Unlike traditional approaches to thalassemia testing, HiFi sequencing allows each DNA molecule to be analyzed directly, discriminating highly homologous sequences while capturing single nucleotide variants (SNVs), insertions and deletions (indels), copy number variants (CNVs), structural variants (SVs), and enabling phasing in a single run.

“We are proud to bring PacBio’s HiFi sequencing technology into clinical practice,” said Dr. Aiping Mao, Vice Director of R&D at Berry Genomics. “This approval validates our shared vision of providing clinicians with the most accurate and comprehensive view of the genome. We plan to expand this capability to more clinical assays like congenital adrenal hyperplasia, fragile X syndrome, spinal muscular atrophy, Duchenne muscular dystrophy, and other complex single-gene disorders and panels. All these assays also work very well on the newly launched benchtop Vega HiFi sequencer in clinical research applications.”

The NMPA approval represents advancement for China’s clinical genomics ecosystem. With this approval, Berry Genomics becomes the first company worldwide authorized to deploy a long-read sequencing platform in clinical settings, empowering laboratories to conduct in-country testing with reduced turnaround times and higher diagnostic yield as compared to existing technology. This achievement reflects PacBio’s continued commitment to collaborate with regional leaders to expand access to comprehensive, highly accurate sequencing. As demand for comprehensive genomic testing continues to grow, PacBio remains focused on expanding the clinical utility of HiFi sequencing. Through partnerships with local institutions and investments in AI-powered analysis, PacBio is committed to lowering barriers to adoption and enabling clinicians worldwide to deliver more precise answers to patients and families.