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PacBio Enters Carrier Screening Market With PureTarget Expansion
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Key Takeaways
PacBio launched expanded PureTarget panels to enter the high-throughput carrier screening market.
The kits consolidate fragmented assays into one test, scaling up to 100,000 samples yearly on Revio.
PureTarget panels come in flexible kit formats, tailored for reproductive health and neurological needs.
PacBio (PACB - Free Report) announced last week its entry into the high-throughput carrier screening market with an expanded PureTarget portfolio powered by its HiFi sequencing technology. The new offering replaces the need for multiple specialized assays by consolidating them into a single scalable test.
As labs and health systems worldwide ramp up their genetic screening programs, PacBio’s solution arrives at a timely moment. The updated PureTarget panels, available in flexible kit formats, enable the throughput of up to 100,000 samples annually on a single Revio system—making them well-suited for a range of applications, from clinical programs to national-scale initiatives. This positions PacBio to capture growing demand in reproductive health and population screening while driving efficiencies and profitability for laboratories.
More on PACB’s Expanded PureTarget Portfolio
PacBio’s expanded PureTarget portfolio is designed to address one of the biggest bottlenecks in genetic screening: the need for multiple fragmented tests to analyze difficult hereditary genes. By leveraging the accuracy of HiFi sequencing, the new kits consolidate these workflows into a single streamlined assay that can cover all challenging tier 3 genes identified by the American College of Medical Genetics.
Historically, conditions like fragile X syndrome, spinal muscular atrophy and Friedreich Ataxia required different technologies and specialized workflows, driving up costs and slowing adoption. With PureTarget, labs can now scale up to 100,000 samples a year on a single Revio system, offering unmatched efficiency at a time when research shows 71 percent of individuals carry at least one pathogenic variant. This combination of accuracy and scale creates a compelling case for widespread adoption in both clinical and population screening programs.
The commercial opportunity is equally important. Carrier screening is expanding rapidly across commercial labs, health systems, and government-backed initiatives worldwide. PacBio’s PureTarget panels are available in 24 and 96-sample kit formats, with configurations tailored to reproductive health, neurological disease repeats expansions and custom validation needs. This flexibility enables laboratories to run high-throughput programs profitably within existing reimbursement structures, while also enhancing the quality of clinical outcomes through improved sensitivity and specificity.
The expanded PureTarget suite highlights PacBio’s ability to transform complex genomic testing into a scalable, revenue-generating platform with clear demand drivers across reproductive health and large-scale population screening.
Industry Prospects Favoring PACB
Per a report by Grand View Research, the global carrier screening market size was valued at $1.2 billion in 2022 and is expected to expand at a CAGR of 12.4% from 2023 to 2030.
Growing government and private sector investment to meet the rising demand for genetic testing is set to drive market expansion. The push toward more cost-efficient technologies for carrier screening is emerging as a major catalyst, while the steady introduction of innovative tests aimed at improving diagnosis and treatment continues to strengthen the industry’s momentum.
Latest Updates From PACB’s Peers
PACB competes with several leading genomics companies advancing next-generation sequencing and genetic testing solutions. Here’s a look at the latest developments from some of PacBio’s key peers:
Illumina (ILMN - Free Report) rolled out Illumina Protein Prep, an NGS-based proteomics assay capable of measuring 9,500 unique human proteins, earlier this month, bringing proteomic insight into large-scale genomics studies. Illumina has also deepened its partnerships in oncology, planning companion diagnostic programs tied to KRAS biomarkers with pharma collaborators.
That said, in early 2025, Illumina got a setback when China imposed a ban on imports of its sequencing instruments, prompting revisions to its outlook and cost-cutting measures to manage the impact. Through these moves, Illumina is expanding into multi-omics while navigating regulatory headwinds, demonstrating both ambition and the kind of risk exposure that investors will closely monitor.
Thermo Fisher Scientific (TMO - Free Report) introduced the MagMAX HMW DNA Kit last month, engineered to extract high-molecular-weight DNA fragments (>100 kb) in under two hours, streamlining upstream sample prep for long-read sequencing workflows. This launch underscores Thermo Fisher’s commitment to supporting the adoption of next-generation sequencing across research labs and clinical centers by addressing historical bottlenecks in DNA quality and throughput.
Meanwhile, at ASCO 2025, Thermo Fisher and its partners presented new data on homologous recombination deficiency assays and combined genomic profiling of cfDNA/ctDNA—reinforcing Thermo Fisher’s commitment to driving precision oncology applications. For investors, Thermo Fisher is clearly investing in bridging the gap between sample prep, sequencing and clinical translation—positioning itself as a comprehensive enabler in the genomics stack.
QIAGEN (QGEN - Free Report) has been actively expanding its NGS and molecular diagnostics footprint in 2025. In July, QGEN launched the QIAseq xHYB Long Read Panels, providing users with hybrid capture options optimized for long-read sequencing platforms, targeting complex regions, structural variants, HLA typing, and repeat expansions. That move signals QGEN’s pivot to supporting both short- and long-read workflows more flexibly.
Earlier in April, QGEN also expanded its cancer genomic profiling suite with new DNA/RNA panels and enhanced tools for QC in cell and gene therapy workflows via its QIAcuity assays. More recently, in May 2025, QGEN acquired Genoox, an AI-powered genomic interpretation software company, to integrate its technology into the Clinical Insight (QCI) and analysis platforms—boosting its end-to-end value proposition in variant interpretation. For investors, QGEN is working to cement its role not just in sample prep and enrichment but increasingly in the analytics and bioinformatics layer of genomics.
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PacBio Enters Carrier Screening Market With PureTarget Expansion
Key Takeaways
PacBio (PACB - Free Report) announced last week its entry into the high-throughput carrier screening market with an expanded PureTarget portfolio powered by its HiFi sequencing technology. The new offering replaces the need for multiple specialized assays by consolidating them into a single scalable test.
As labs and health systems worldwide ramp up their genetic screening programs, PacBio’s solution arrives at a timely moment. The updated PureTarget panels, available in flexible kit formats, enable the throughput of up to 100,000 samples annually on a single Revio system—making them well-suited for a range of applications, from clinical programs to national-scale initiatives. This positions PacBio to capture growing demand in reproductive health and population screening while driving efficiencies and profitability for laboratories.
More on PACB’s Expanded PureTarget Portfolio
PacBio’s expanded PureTarget portfolio is designed to address one of the biggest bottlenecks in genetic screening: the need for multiple fragmented tests to analyze difficult hereditary genes. By leveraging the accuracy of HiFi sequencing, the new kits consolidate these workflows into a single streamlined assay that can cover all challenging tier 3 genes identified by the American College of Medical Genetics.
Historically, conditions like fragile X syndrome, spinal muscular atrophy and Friedreich Ataxia required different technologies and specialized workflows, driving up costs and slowing adoption. With PureTarget, labs can now scale up to 100,000 samples a year on a single Revio system, offering unmatched efficiency at a time when research shows 71 percent of individuals carry at least one pathogenic variant. This combination of accuracy and scale creates a compelling case for widespread adoption in both clinical and population screening programs.
The commercial opportunity is equally important. Carrier screening is expanding rapidly across commercial labs, health systems, and government-backed initiatives worldwide. PacBio’s PureTarget panels are available in 24 and 96-sample kit formats, with configurations tailored to reproductive health, neurological disease repeats expansions and custom validation needs. This flexibility enables laboratories to run high-throughput programs profitably within existing reimbursement structures, while also enhancing the quality of clinical outcomes through improved sensitivity and specificity.
The expanded PureTarget suite highlights PacBio’s ability to transform complex genomic testing into a scalable, revenue-generating platform with clear demand drivers across reproductive health and large-scale population screening.
Industry Prospects Favoring PACB
Per a report by Grand View Research, the global carrier screening market size was valued at $1.2 billion in 2022 and is expected to expand at a CAGR of 12.4% from 2023 to 2030.
Growing government and private sector investment to meet the rising demand for genetic testing is set to drive market expansion. The push toward more cost-efficient technologies for carrier screening is emerging as a major catalyst, while the steady introduction of innovative tests aimed at improving diagnosis and treatment continues to strengthen the industry’s momentum.
Latest Updates From PACB’s Peers
PACB competes with several leading genomics companies advancing next-generation sequencing and genetic testing solutions. Here’s a look at the latest developments from some of PacBio’s key peers:
Illumina (ILMN - Free Report) rolled out Illumina Protein Prep, an NGS-based proteomics assay capable of measuring 9,500 unique human proteins, earlier this month, bringing proteomic insight into large-scale genomics studies. Illumina has also deepened its partnerships in oncology, planning companion diagnostic programs tied to KRAS biomarkers with pharma collaborators.
That said, in early 2025, Illumina got a setback when China imposed a ban on imports of its sequencing instruments, prompting revisions to its outlook and cost-cutting measures to manage the impact. Through these moves, Illumina is expanding into multi-omics while navigating regulatory headwinds, demonstrating both ambition and the kind of risk exposure that investors will closely monitor.
Thermo Fisher Scientific (TMO - Free Report) introduced the MagMAX HMW DNA Kit last month, engineered to extract high-molecular-weight DNA fragments (>100 kb) in under two hours, streamlining upstream sample prep for long-read sequencing workflows. This launch underscores Thermo Fisher’s commitment to supporting the adoption of next-generation sequencing across research labs and clinical centers by addressing historical bottlenecks in DNA quality and throughput.
Meanwhile, at ASCO 2025, Thermo Fisher and its partners presented new data on homologous recombination deficiency assays and combined genomic profiling of cfDNA/ctDNA—reinforcing Thermo Fisher’s commitment to driving precision oncology applications. For investors, Thermo Fisher is clearly investing in bridging the gap between sample prep, sequencing and clinical translation—positioning itself as a comprehensive enabler in the genomics stack.
QIAGEN (QGEN - Free Report) has been actively expanding its NGS and molecular diagnostics footprint in 2025. In July, QGEN launched the QIAseq xHYB Long Read Panels, providing users with hybrid capture options optimized for long-read sequencing platforms, targeting complex regions, structural variants, HLA typing, and repeat expansions. That move signals QGEN’s pivot to supporting both short- and long-read workflows more flexibly.
Earlier in April, QGEN also expanded its cancer genomic profiling suite with new DNA/RNA panels and enhanced tools for QC in cell and gene therapy workflows via its QIAcuity assays. More recently, in May 2025, QGEN acquired Genoox, an AI-powered genomic interpretation software company, to integrate its technology into the Clinical Insight (QCI) and analysis platforms—boosting its end-to-end value proposition in variant interpretation. For investors, QGEN is working to cement its role not just in sample prep and enrichment but increasingly in the analytics and bioinformatics layer of genomics.