AGTC Genomics Launches Advanced Long-Read NGS Test for Comprehensive Thalassemia Genetic Characterisation

New long-read sequencing approach enables more complete detection of complex thalassemia variants, supporting improved diagnosis, carrier screening and family planning

AGTC Genomics announced the launch of its Thalassemia Genetic Test powered by Long-Read Next-Generation Sequencing (NGS), an advanced genomic testing solution designed to provide more comprehensive genetic characterisation of thalassemia and related haemoglobin disorders.

Thalassemia is one of the most common inherited blood disorders in Southeast Asia. Yet its underlying genetics can be highly complex. Conventional testing approaches may require multiple sequential tests and can face limitations in identifying structural alterations, complex rearrangements, rare variants and determining whether multiple variants occur in cis or trans.

AGTC Genomics' long-read sequencing approach is designed to address these challenges by analysing long stretches of DNA across key thalassemia-associated genes, including HBA1, HBA2, HBB and HBD. The platform enables comprehensive detection of single nucleotide variants, small insertions and deletions, large deletions, structural variants, homologous recombination events and complex genetic alterations, while also supporting variant phasing for more precise clinical interpretation.

“Thalassemia is not always caused by a simple or easily identifiable genetic alteration. Complex combinations of variants can create significant diagnostic challenges, particularly when conventional methods are used in isolation,” said Professor Chee-Onn Leong, Founder and CEO of AGTC Genomics. “By bringing long-read sequencing into clinical thalassemia testing, our goal is to provide clinicians and families with a more complete genetic picture from a single comprehensive workflow, enabling greater confidence in diagnosis, genetic counselling and reproductive planning.”

Moving Beyond the Limitations of Conventional Testing

Unlike conventional approaches that may rely on several separate assays, long-read sequencing can analyse larger DNA fragments and resolve genetic regions that are difficult to characterise using shorter sequencing reads. AGTC Genomics combines long-read sequencing with genome alignment, advanced variant detection and AI-powered bioinformatics analysis to generate clinically relevant genetic insights.

The technology is designed to provide:

• Comprehensive genetic coverage across major alpha- and beta-thalassemia-associated genes and relevant genomic regions.

• Detection of multiple variant classes, including SNVs, InDels, large deletions and structural alterations.

• Identification of complex genetic events, including homologous recombination and gene conversion.

• Cis/trans variant phasing, helping determine the configuration of multiple genetic variants for improved clinical interpretation.

• A more integrated testing approach, reducing reliance on multiple sequential genetic assays in complex cases.

Supporting Clinical Care Across the Patient Journey

The AGTC Genomics Thalassemia Long-Read NGS test has applications across a wide range of clinical scenarios, including carrier screening, premarital screening, prenatal diagnosis, family planning, confirmatory testing and complex genotyping.

More complete genetic characterisation can help healthcare professionals better understand the molecular basis of a patient's condition, clarify complex or inconclusive findings and provide families with more informative genetic counselling.

For couples planning a family, accurately defining carrier status and the underlying genetic variants may also support a clearer assessment of inherited risk and more informed reproductive decision-making.

Advancing Precision Genomics for Inherited Blood Disorders

The launch reflects AGTC Genomics' continued commitment to expanding access to advanced genomic technologies and translating next-generation sequencing into meaningful clinical applications.

The test is performed using peripheral whole blood and is available in Basic and Comprehensive panel options, with a stated turnaround time of approximately 21 working days.

“Our vision is to make advanced genomic technologies clinically accessible where they can create the greatest impact,” Professor Leong added. “For thalassemia, a more complete understanding of the underlying genetics can contribute to better screening, more confident diagnosis and more informed planning for future generations.”

Screen. Detect. Plan.

With its new Long-Read NGS-based Thalassemia Genetic Test, AGTC Genomics aims to support clinicians, patients and families with accurate, comprehensive and clinically actionable genetic insights across the thalassemia care pathway.

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About AGTC Genomics

AGTC Genomics is a clinical genomics laboratory based in Kuala Lumpur, Malaysia, providing advanced genomic testing solutions across precision medicine, inherited disorders, oncology and preventive healthcare. Through the integration of next-generation sequencing, bioinformatics and clinical interpretation, AGTC Genomics is committed to translating complex genomic information into meaningful insights for healthcare professionals and patients.