AGTC Genomics Launches Advanced Long-Read NGS Test for Comprehensive Thalassemia Diagnosis
- 3 days ago
- 2 min read
New assay provides comprehensive detection of over 2,000 clinically relevant variants in a single test, advancing precision medicine for one of Southeast Asia's most common inherited disorders
AGTC Genomics today announced the launch of its Long-Read Thalassemia NGS Test, an advanced next-generation sequencing (NGS) assay designed to provide comprehensive and accurate genetic characterization of thalassemia and related hemoglobinopathies through a single, streamlined workflow.
Thalassemia remains one of the most prevalent inherited blood disorders in Southeast Asia, affecting millions of individuals and families. Accurate genetic diagnosis is critical for carrier screening, prenatal diagnosis, family planning, disease management, and prevention strategies. However, conventional testing methods often require multiple sequential assays and may be limited in their ability to detect complex genetic variants.
The newly launched AGTC Genomics Long-Read Thalassemia NGS Test leverages state-of-the-art long-read sequencing technology to overcome these challenges by enabling comprehensive analysis of the HBA1, HBA2, HBB, and HBD genes in a single assay.
The test is capable of detecting more than 2,000 clinically relevant variants, including single nucleotide variants (SNVs), insertions and deletions (InDels), large deletions, structural variants, homologous recombination events, and complex genetic rearrangements. The technology also provides cis/trans phasing capability, allowing clinicians to determine the configuration of variants for more accurate clinical interpretation.
"Thalassemia is a significant public health challenge in Malaysia and across the region. We developed this assay to provide clinicians and laboratories with a comprehensive solution that delivers deeper genetic insights and greater diagnostic confidence," said Prof. Dr. Chee-Onn Leong, Founder and CEO of AGTC Genomics.
"By utilizing long-read sequencing technology, we can detect variants that may be missed by conventional approaches while simplifying the testing workflow. This allows healthcare providers to make more informed decisions for patient care, reproductive planning, and disease prevention."
Key Features of the AGTC Genomics Long-Read Thalassemia NGS Test
Comprehensive coverage of HBA1, HBA2, HBB, and HBD genes
Detection of over 2,000 clinically relevant variants
Identification of SNVs, InDels, large deletions, and structural variants
Detection of homologous recombination events
Cis/trans variant phasing for enhanced clinical interpretation
Single comprehensive assay replacing multiple sequential tests
High analytical sensitivity and specificity
Support for both common and rare thalassemia variants
The test is designed to support a broad range of clinical applications, including carrier screening, premarital testing, preconception screening, prenatal diagnosis, antenatal screening, family studies, confirmatory genetic testing, and the evaluation of complex referral cases.
As a leading precision medicine and clinical genomics provider, AGTC Genomics continues to expand its portfolio of advanced molecular diagnostic solutions aimed at improving healthcare outcomes through genomics-driven medicine. The launch of the Long-Read Thalassemia NGS Test reflects the company's commitment to bringing world-class genomic technologies closer to clinicians, laboratories, and patients throughout Malaysia and the wider Southeast Asian region.
About AGTC Genomics
AGTC Genomics is a Malaysian precision medicine company specializing in clinical genomics, next-generation sequencing, molecular diagnostics, and bioinformatics. The company provides a comprehensive portfolio of genomic testing services spanning oncology, hereditary diseases, reproductive health, pharmacogenomics, infectious diseases, and preventive health. AGTC Genomics operates one of the region's leading genomics laboratories and is committed to advancing precision medicine through innovation, research, and clinical excellence.
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