05 Dec
Categories Diseases, Hematology, Immunology, speciality









Overview


Minagene's Primary Immunodeficiency Gene Panel is a specialized genetic test designed to provide a comprehensive analysis of genetic mutations associated with primary immunodeficiency disorders. This advanced panel utilizes next-generation sequencing (NGS) technology to analyze a panel of genes involved in immune system function, allowing for precise diagnosis, personalized treatment strategies, and informed genetic counseling for individuals with primary immunodeficiency disorders.


Methodology



The Primary Immunodeficiency


The Primary Immunodeficiency Gene Panel employs targeted NGS technology to sequence a panel of genes known to be associated with primary immunodeficiency disorders. The panel covers a wide range of genes involved in immune system development, function, and regulation. By analyzing these genes, the panel provides a comprehensive genetic profile that helps identify specific genetic mutations contributing to primary immunodeficiency disorders, guiding accurate diagnosis and personalized management.


Key Highlights of the Test:


Key Highlights of the Test:


-Comprehensive Genetic Evaluation: The Primary Immunodeficiency Gene Panel offers a comprehensive evaluation of genetic mutations associated with primary immunodeficiency disorders. It analyzes key genes involved in immune system function and regulation, including immunoglobulin genes, cytokine receptors, and genes associated with T and B cell development. This comprehensive approach enables the identification of potential causative genetic mutations, aiding in accurate primary immunodeficiency disorder diagnosis.


-Precise Diagnosis: By identifying specific genetic mutations, the panel facilitates precise diagnosis and differentiation between different subtypes of primary immunodeficiency disorders. It helps categorize disorders such as common variable immunodeficiency (CVID), severe combined immunodeficiency (SCID), and selective antibody deficiencies, allowing for more targeted management strategies.


-Personalized Treatment Selection: The panel’s genetic insights assist in personalized treatment selection for individuals with primary immunodeficiency disorders. By identifying specific genetic mutations, the panel helps guide treatment decisions, including immunoglobulin replacement therapy, hematopoietic stem cell transplantation (HSCT), targeted therapies, or gene therapy based on the underlying genetic abnormalities.


-Prognostic Assessment: The Primary Immunodeficiency Gene Panel provides valuable prognostic information by identifying genetic mutations associated with disease severity and clinical outcomes. This information aids in risk stratification and treatment planning, allowing clinicians to optimize therapeutic interventions and improve patient prognosis.


-Genetic Counseling and Family Screening: The genetic information obtained from the panel can be used for genetic counseling and family screening. It helps identify family members who may carry pathogenic mutations associated with primary immunodeficiency disorders, enabling early detection and intervention in at-risk individuals.


When to Consider This Test:


-Diagnostic Evaluation: The Primary Immunodeficiency Gene Panel is recommended for individuals suspected of having primary immunodeficiency disorders, particularly in cases where there is a history of recurrent, severe, or unusual infections. The panel aids in precise diagnosis and differentiation between different subtypes of primary immunodeficiency disorders.


-Personalized Treatment Planning: The test is valuable for personalized treatment planning in individuals with primary immunodeficiency disorders. By identifying specific genetic mutations, the panel helps guide treatment decisions, including the selection of appropriate immunoglobulin replacement therapies, HSCT, targeted therapies, or gene therapy based on the underlying genetic abnormalities.


-Prognostic Assessment: The panel’s genetic insights assist in prognostic assessment by identifying genetic mutations associated with disease severity and clinical outcomes. This information aids in risk stratification and treatment planning, enabling clinicians to optimize therapeutic interventions and improve patient prognosis.


-Genetic Counseling and Family Screening: The panel’s results can be used for genetic counseling and family screening. It helps identify family members who may carry pathogenic mutations associated with primary immunodeficiency disorders, facilitating early detection and intervention in at-risk individuals.


-Research and Clinical Trials: The Primary Immunodeficiency Gene Panel can be utilized in research studies and clinical trials focusing on primary immunodeficiency disorders. The panel’s comprehensive genetic profiling may contribute to a better understanding of the genetic basis of these disorders and help identify potential therapeutic targets.


-In conclusion, Minagene’s Primary Immunodeficiency Gene Panel offers a comprehensive genetic evaluation for accurate diagnosis and management of primary immunodeficiency disorders. By analyzing key genes associated with immune system function, the panel provides valuable genetic insights that guide precise diagnosis, personalized treatment selection, prognostic assessment, and genetic counseling. This panel enhances our understanding of primary immunodeficiency disorders and contributes to improved patient outcomes in the management of these complex conditions.

05 Dec
Categories Diseases, Genetics, Hematology, speciality









Overview


Minagene's Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel is a specialized genetic test designed to provide comprehensive genetic information for precise diagnosis and management of HLH. This panel utilizes advanced next-generation sequencing (NGS) technology to analyze a panel of genes associated with HLH, enabling clinicians to identify causative genetic mutations and guide personalized treatment strategies for improved patient outcomes.


Methodology



The HLH Gene Panel


The HLH Gene Panel utilizes targeted NGS technology to sequence selected genes known to be associated with HLH. The panel covers a wide range of genes involved in immune dysregulation, cytokine signaling, and cytotoxicity pathways. By analyzing these genes, the panel provides a comprehensive genetic profile that helps identify specific genetic mutations contributing to HLH, guiding accurate diagnosis and personalized management.


Key Highlights of the Test:


Key Highlights of the Test:


-Comprehensive Genetic Evaluation: The HLH Gene Panel offers a comprehensive evaluation of genetic mutations associated with HLH. It analyzes key genes involved in immune dysregulation and cytotoxicity pathways, including PRF1, UNC13D, STXBP2, and others. This comprehensive approach enables the identification of potential causative genetic mutations, aiding in accurate HLH diagnosis.


-Precise Diagnosis: By identifying specific genetic mutations, the panel facilitates precise diagnosis and differentiation between different subtypes of HLH. It helps distinguish between primary and secondary HLH, enabling clinicians to provide appropriate management strategies and prognostic information.


-Personalized Treatment Selection: The panel’s genetic insights assist in personalized treatment selection for HLH patients. By identifying specific genetic mutations, the panel helps guide treatment decisions, including the use of immunomodulatory therapies, hematopoietic stem cell transplantation (HSCT), or targeted therapies based on the underlying genetic abnormalities.


-Prognostic Assessment: The HLH Gene Panel provides valuable prognostic information by identifying genetic mutations associated with disease severity and clinical outcomes. This information aids in risk stratification and treatment planning, allowing clinicians to optimize therapeutic interventions and improve patient prognosis.


-Genetic Counseling and Family Screening: The genetic information obtained from the panel can be used for genetic counseling and family screening. It helps identify family members who may carry pathogenic mutations associated with HLH, enabling early detection and intervention in at-risk individuals.


When to Consider This Test:


-Diagnostic Evaluation: The HLH Gene Panel is recommended for patients suspected of having HLH, particularly in cases where the clinical presentation is consistent with immune dysregulation and cytokine storm. The panel aids in precise diagnosis and differentiation between primary and secondary HLH.


-Personalized Treatment Planning: The test is valuable for personalized treatment planning in HLH patients. By identifying specific genetic mutations, the panel helps guide treatment decisions, including the selection of appropriate immunomodulatory therapies, HSCT, or targeted therapies based on the underlying genetic abnormalities.


-Prognostic Assessment: The panel’s genetic insights assist in prognostic assessment by identifying genetic mutations associated with disease severity and clinical outcomes. This information aids in risk stratification and treatment planning, enabling clinicians to optimize therapeutic interventions and improve patient prognosis.


-Genetic Counseling and Family Screening: The panel’s results can be used for genetic counseling and family screening. It helps identify family members who may carry pathogenic mutations associated with HLH, facilitating early detection, and intervention in at-risk individuals.


-Research and Clinical Trials: The HLH Gene Panel can be utilized in research studies and clinical trials focusing on HLH. The panel’s comprehensive genetic profiling may contribute to a better understanding of the genetic basis of HLH and help identify potential therapeutic targets.

05 Dec
Categories Diseases, Genetics, Hematology, speciality









Overview


Minagene's Thalassemia Mutation Test is a specialized genetic test designed to provide a comprehensive analysis of genetic mutations associated with thalassemia. This advanced test utilizes state-of-the-art molecular techniques to identify specific mutations in genes involved in hemoglobin production. By unraveling the genetic basis of thalassemia, this test aids in accurate diagnosis, carrier screening, and genetic counseling, facilitating informed reproductive decisions and personalized patient care.


Methodology



The Thalassemia Mutation


The Thalassemia Mutation Test employs targeted DNA sequencing or genotyping techniques to analyze specific genes associated with thalassemia, such as the HBB (beta-globin) gene. The test aims to identify known pathogenic mutations, including point mutations, deletions, and insertions, which may disrupt normal hemoglobin production. The analysis provides detailed information about the specific mutations present, allowing for precise diagnosis and carrier status determination.


Key Highlights of the Test:


Key Highlights of the Test:


-Comprehensive Genetic Evaluation: The Thalassemia Mutation Test offers a comprehensive evaluation of genetic mutations associated with thalassemia. By analyzing specific genes involved in hemoglobin production, such as the HBB gene, the test identifies known pathogenic mutations, providing a detailed genetic profile for accurate diagnosis and carrier screening.


-Accurate Diagnosis: The test aids in accurate diagnosis by identifying specific mutations associated with different types and severity of thalassemia. It helps distinguish between alpha-thalassemia and beta-thalassemia, as well as differentiating thalassemia trait carriers from individuals with thalassemia major or intermedia.


-Carrier Screening and Genetic Counseling: The Thalassemia Mutation Test is valuable for carrier screening in populations with a high prevalence of thalassemia. It helps identify individuals who carry thalassemia mutations and are at risk of passing the condition to their offspring. The test results enable genetic counseling, allowing individuals and couples to make informed reproductive decisions.


-Prenatal Diagnosis: In cases where thalassemia is suspected in a pregnancy, the test can be used for prenatal diagnosis. By analyzing fetal DNA obtained through non-invasive prenatal testing (NIPT) or invasive procedures, such as chorionic villus sampling (CVS) or amniocentesis, the test can detect thalassemia mutations in the fetus, aiding in early diagnosis and appropriate management.


-Personalized Management: The Thalassemia Mutation Test supports personalized management by providing crucial information for treatment planning and monitoring. It helps guide appropriate interventions, such as blood transfusions, iron chelation therapy, and stem cell transplantation, based on the specific genetic mutations identified in each individual.


When to Consider This Test:


-Diagnostic Evaluation: The Thalassemia Mutation Test is recommended for individuals with clinical suspicion of thalassemia, including those presenting with anemia, abnormal hemoglobin patterns, or a family history of thalassemia. The test aids in accurate diagnosis and differentiation between different types and severity of thalassemia.


-Carrier Screening: The test is valuable for carrier screening in populations with a high prevalence of thalassemia. It helps identify individuals who carry thalassemia mutations and are at risk of transmitting the condition to their offspring, facilitating informed reproductive decisions.


-Genetic Counseling: The Thalassemia Mutation Test results serve as the basis for genetic counseling. It enables individuals and couples to understand their carrier status, assess the risk of having affected children, and make informed decisions regarding family planning and reproductive options.


-Prenatal Diagnosis: In pregnancies where thalassemia is suspected, the test can be used for prenatal diagnosis. It aids in early identification of thalassemia mutations in the fetus, allowing for appropriate counseling, and enabling timely management and intervention planning.


-Personalized Management: The test results guide personalized management strategies for individuals with thalassemia. By identifying specific mutations, the test helps tailor treatment plans, including blood transfusions, iron chelation therapy, and stem cell transplantation, according to each patient’s genetic profile.

05 Dec
Categories Diseases, Oncology, Pulmonology, speciality









Overview


Minagene's Non-Small Cell Lung Cancer (NSCLC) Panel is a specialized genetic test designed to provide comprehensive genetic information for precise diagnosis, prognosis, and personalized treatment selection in patients with NSCLC. This panel utilizes cutting-edge next-generation sequencing (NGS) technology to analyze key genes and genetic alterations associated with NSCLC, enabling clinicians to make informed treatment decisions and optimize patient outcomes.


Methodology



The NSCLC Panel


The NSCLC Panel utilizes NGS-based targeted sequencing to analyze DNA or RNA extracted from tumor samples of NSCLC patients. The panel covers a wide range of genes known to be involved in NSCLC development and progression, including driver mutations, gene fusions, copy number variations (CNVs), and other genetic alterations. By assessing the genetic landscape of NSCLC, the panel provides a comprehensive genetic profile that guides personalized management strategies.


Key Highlights of the Test:


Key Highlights of the Test:


-Comprehensive Genetic Evaluation: The NSCLC Panel offers a comprehensive evaluation of genetic alterations associated with NSCLC. It analyzes key genes involved in NSCLC development, including EGFR, ALK, ROS1, KRAS, BRAF, and many others, allowing for a detailed genetic profile of the tumor. This information aids in accurate diagnosis, subtyping, and identification of potential therapeutic targets.


-Personalized Treatment Selection: By identifying actionable genetic alterations, the panel facilitates personalized treatment selection. It helps identify patients who are likely to benefit from targeted therapies, immunotherapies, or clinical trials based on their specific genetic profile. This approach improves treatment response rates and overall patient outcomes.


-Prognostic Insights: The NSCLC Panel provides valuable prognostic insights by assessing genetic alterations associated with disease aggressiveness and patient prognosis. The identification of high-risk genetic markers guides clinicians in tailoring treatment strategies, including the intensity and duration of therapy, to optimize patient outcomes.


-Resistance Mechanism Detection: The panel aids in detecting genetic alterations associated with resistance to targeted therapies commonly used in NSCLC. By identifying these resistance mechanisms, clinicians can make timely treatment adjustments, explore alternative treatment options, or consider combination therapies to overcome drug resistance.


-Monitoring Treatment Response: Serial analysis using the NSCLC Panel enables the monitoring of treatment response over time. By tracking changes in the genetic profile, clinicians can assess treatment efficacy, detect emerging resistance mechanisms, and guide treatment modifications for optimal disease control.


When to Consider This Test:


-NSCLC Diagnosis: The NSCLC Panel is recommended for patients with suspected or newly diagnosed NSCLC. It aids in precise diagnosis, subtyping, and identification of genetic alterations that guide treatment decisions.


-Treatment Decision-Making: The test assists in treatment decision-making by identifying actionable genetic alterations that guide targeted therapy selection. It helps identify patients who may benefit from specific targeted agents, immunotherapies, or clinical trials based on their genetic profile.


-Prognostic Assessment: The panel provides prognostic information by assessing genetic alterations associated with disease aggressiveness and patient prognosis. This information helps clinicians in risk stratification and treatment planning.


-Resistance Mechanism Detection: The panel aids in detecting genetic alterations associated with resistance to targeted therapies. It guides treatment adjustments and exploration of alternative treatment options to overcome drug resistance.


-Treatment Response Monitoring: Serial testing using the NSCLC Panel enables the monitoring of treatment response and the detection of emerging resistance mechanisms. This information guides treatment adjustments and ensures optimal disease control.

05 Dec
Categories Diseases, Hematology, Oncology, speciality









Overview


Minagene's Comprehensive Leukemia Panel is a specialized genetic test designed to provide a comprehensive assessment of genetic alterations associated with various types of leukemia. This advanced panel employs next-generation sequencing (NGS) technology to analyze a wide range of genes known to be involved in leukemia development and progression. By unraveling the genetic landscape of leukemia, this panel aids in precise diagnosis, risk stratification, and personalized treatment selection for improved patient outcomes.


Methodology



The Comprehensive Leukemia


The Comprehensive Leukemia Panel utilizes NGS technology to analyze DNA or RNA extracted from leukemia samples. The panel covers a broad spectrum of genes associated with different leukemia subtypes, including acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), chronic lymphocytic leukemia (CLL), and others. The analysis detects various types of mutations, including single nucleotide variants (SNVs), insertions/deletions (indels), gene fusions, and copy number variations (CNVs), providing a comprehensive genetic profile of the leukemia.


Key Highlights of the Test:


Key Highlights of the Test:


-Comprehensive Genetic Evaluation: The Comprehensive Leukemia Panel performs a comprehensive evaluation of genes associated with different types of leukemia. By analyzing a wide range of genetic alterations, including driver mutations and recurrent gene fusions, the panel provides a detailed genetic profile, aiding in accurate diagnosis and risk stratification.


-Precise Diagnosis and Subtyping: The panel helps in precise diagnosis and subtyping of leukemia by identifying specific genetic alterations associated with different subtypes. This information is valuable for guiding treatment decisions and selecting subtype-specific therapeutic approaches.


-Risk Stratification: The identification of specific genetic alterations through the panel enables risk stratification, which helps predict disease aggressiveness and patient prognosis. By assessing the presence of high-risk genetic markers, clinicians can tailor treatment strategies, including the intensity and duration of therapy, to optimize patient outcomes.


-Personalized Treatment Selection: The Comprehensive Leukemia Panel facilitates personalized treatment selection by identifying actionable genetic alterations that can guide targeted therapies. The panel’s findings can assist in the selection of appropriate targeted agents or clinical trials, improving treatment response and long-term outcomes.


-Monitoring Treatment Response and Minimal Residual Disease: Serial analysis using the panel allows for monitoring treatment response and detecting minimal residual disease. By tracking changes in the genetic profile over time, clinicians can assess treatment efficacy, identify emerging resistance mechanisms, and guide treatment modifications for optimal disease control.


When to Consider This Test


-Leukemia Diagnosis: The Comprehensive Leukemia Panel is recommended for patients with suspected or newly diagnosed leukemia. The panel aids in precise diagnosis, subtyping, and risk stratification, providing critical information for treatment planning.


-Treatment Decision-Making: The test is valuable for treatment decision-making by identifying actionable genetic alterations that guide targeted therapy selection. It helps identify patients who may benefit from specific targeted agents, immunotherapies, or clinical trials based on their genetic profile.


-Risk Stratification: The panel assists in risk stratification, enabling clinicians to identify patients at higher risk of disease progression or relapse. This information helps determine the appropriate treatment intensity, including the need for more aggressive therapy or stem cell transplantation.


-Treatment Response Monitoring: Serial testing using the Comprehensive Leukemia Panel enables the monitoring of treatment response and the detection of emerging resistance mechanisms. This information guides treatment adjustments and ensures optimal disease control.


-Minimal Residual Disease Monitoring: The panel can be utilized to monitor minimal residual disease status in patients who have achieved remission. Detecting residual genetic alterations helps assess treatment response and guides decisions regarding treatment duration and the need for additional interventions

03 Dec
Categories Diseases, Oncology, Pulmonology, speciality









Overview


Minagene's EGFR Gene Testing is a specialized genetic analysis designed to identify mutations within the Epidermal Growth Factor Receptor (EGFR) gene in patients with lung cancer. This comprehensive testing approach utilizes state-of-the-art techniques, including next-generation sequencing (NGS) and other molecular methodologies, to detect EGFR mutations. By providing valuable genetic insights, this test aids in personalized treatment decision-making, particularly in the context of targeted therapies for lung cancer.


Methodology



he EGFR Gene Testing


The EGFR Gene Testing employs NGS technology to analyze the DNA extracted from tumor samples or circulating tumor DNA (ctDNA). This approach allows for the detection of various EGFR mutations, including exon 19 deletions, exon 21 L858R point mutations, and other less common alterations. The test also assesses the presence of EGFR T790M mutation, which is associated with resistance to EGFR tyrosine kinase inhibitors (TKIs).


Key Highlights of the Test:


Key Highlights of the Test:


-Detection of EGFR Mutations: The EGFR Gene Testing identifies mutations within the EGFR gene, providing crucial information about the genetic profile of the tumor. It enables the detection of common activating mutations, such as exon 19 deletions and exon 21 L858R point mutations, as well as less common alterations within the EGFR gene.


-Personalized Treatment Selection: By identifying EGFR mutations, the test helps guide personalized treatment decisions, particularly in the context of targeted therapies for lung cancer. Patients with EGFR mutations may be candidates for EGFR TKIs, which have shown efficacy in this specific molecular subtype of lung cancer.


-Resistance Mechanism Assessment: The EGFR Gene Testing also assesses the presence of the EGFR T790M mutation, which is associated with acquired resistance to EGFR TKIs. Detection of this mutation is crucial for identifying patients who may benefit from alternative treatment strategies, such as third-generation EGFR TKIs or combination therapies.


-Monitoring Treatment Response: The test can be utilized to monitor treatment response and disease progression by detecting changes in EGFR mutation status over time. This enables physicians to assess treatment efficacy, identify emerging resistance mechanisms, and make informed decisions regarding treatment adjustments.


When to Consider This Test:


-Newly Diagnosed Lung Cancer: The EGFR Gene Testing should be considered in patients with newly diagnosed lung cancer, particularly those with non-small cell lung cancer (NSCLC), as EGFR mutations are more prevalent in this subtype. Identifying EGFR mutations at the time of diagnosis helps guide treatment decisions and optimize therapy for improved patient outcomes.


-Targeted Therapy Selection: The test is essential for selecting the most appropriate targeted therapy for patients with lung cancer harboring EGFR mutations. Positive EGFR mutation status is a predictive biomarker for the efficacy of EGFR TKIs, allowing for personalized treatment selection and optimization.


-Treatment Resistance Evaluation: In patients who initially respond to EGFR TKIs but later develop resistance, the EGFR Gene Testing can identify the EGFR T790M mutation, which is a common mechanism of acquired resistance. Detecting this mutation helps guide the selection of alternative treatment options to overcome resistance and improve treatment outcomes.


-Disease Progression Monitoring: The test can be used to monitor disease progression and treatment response over time. Serial testing enables the detection of emerging resistance mechanisms, guiding treatment adjustments and optimizing long-term management.

03 Dec
Categories Diseases, Oncology, Pathology, speciality









Overview


Minagene's OncoTrack is a state-of-the-art genomic profiling test designed to empower physicians in delivering precision oncology for patients with cancer. By employing advanced molecular techniques and comprehensive genomic analysis, OncoTrack enables the identification of actionable genetic alterations in tumors, providing valuable insights into treatment selection, prognosis, and therapeutic monitoring. With its cutting-edge technology and extensive gene coverage, OncoTrack revolutionizes cancer management by facilitating personalized treatment strategies.


Methodology



OncoTrack utilizes


OncoTrack utilizes next-generation sequencing (NGS) technology, capturing and analyzing tumor DNA from patient samples. This approach enables the identification of key genetic alterations, including somatic mutations, copy number variations (CNVs), gene fusions, and other relevant genomic changes. By comparing the tumor DNA with the patient’s normal DNA, OncoTrack precisely detects tumor-specific alterations, allowing for a comprehensive genomic profiling of the cancer.


Key Highlights of the Test:


Key Highlights of the Test:


-Comprehensive Gene Coverage: OncoTrack covers a wide range of cancer-associated genes, including those known to be frequently mutated or involved in various oncogenic pathways. This comprehensive gene coverage ensures that physicians obtain a detailed understanding of the genetic landscape of the tumor, enabling personalized treatment decisions.


-Actionable Insights for Treatment: OncoTrack provides actionable insights by identifying genetic alterations that have known associations with targeted therapies, immunotherapies, or clinical trials. This information empowers physicians to select the most effective treatment options for their patients, maximizing the chances of treatment success.


-Prognostic and Predictive Markers: The test identifies prognostic markers that provide valuable information about the patient’s disease trajectory, facilitating prognostic evaluation and aiding in long-term care planning. Additionally, OncoTrack identifies predictive markers, enabling the prediction of treatment response and resistance, thereby guiding treatment selection and monitoring.


-Tumor Heterogeneity Assessment: OncoTrack offers the ability to assess intratumoral heterogeneity, identifying clonal and subclonal alterations within the tumor. This information enhances the understanding of tumor evolution, resistance mechanisms, and potential therapeutic vulnerabilities, enabling a more comprehensive and personalized treatment approach.



When to Consider This Test:


-Treatment Selection: OncoTrack assists physicians in selecting targeted therapies or immunotherapies based on the identified genetic alterations in the tumor. By matching the genetic profile of the tumor with available treatment options, physicians can tailor treatment regimens to maximize therapeutic efficacy.


-Prognostic Evaluation: The test provides valuable prognostic information by identifying genetic markers associated with disease progression, recurrence, or overall survival. This aids in risk stratification and helps guide treatment decisions and long-term care plans.


-Therapeutic Monitoring: OncoTrack enables serial monitoring of genetic alterations during the course of treatment. By tracking changes in the tumor’s genomic profile over time, physicians can assess treatment response, detect emerging resistance mechanisms, and make informed decisions regarding treatment adjustments.


-Clinical Trial Eligibility: OncoTrack identifies genetic alterations that match ongoing clinical trials, potentially offering patients access to novel therapies and expanding their treatment options beyond standard-of-care approaches.

03 Dec
Categories Diseases, Infectious Diseases, Pulmonology, speciality









Overview


Minagene's proprietary solution utilizes whole-genome sequencing directly from sputum and other clinical samples to rapidly detect Mycobacterium tuberculosis complex and identify genetic mutations associated with drug resistance.


Methodology



Specimens undergo phenol-chloroform


Specimens undergo phenol-chloroform extraction followed by Nextera XT library preparation and Illumina sequencing. A curated pathogen database enables identification of Mtb from sequencing reads. Algorithms further characterize resistance-conferring variants across all anti-TB drug targets.


Key Highlights of Minagene’s Tuberculosis Diagnostics Solution


Key Highlights of Minagene’s


-Detects Mtb directly from specimens in hours, not weeks


-Sensitively identifies non-tuberculous mycobacteria


-Assesses mutations for all first and second-line drugs


-Predicts multidrug resistant/extensively drug resistant profiles


-Guides early optimization of personalized treatment regimens


By applying an unbiased meta’omic approach, this solution resolves diagnostic delays impairing TB control. Rapid resistance data supports effective empiric therapy selection while limiting further transmission of resistant strains.


When to Consider Minagene’s Tuberculosis Diagnostics Solution


Physicians should utilize Minagene's sequencing-based TB diagnostic in confirmed or suspected cases where rapid anti-microbial stewardship is paramount to improving patient outcomes and public health.

03 Dec
Categories Diseases, Infectious Diseases, Metabolic Medicine, speciality









Overview


Minagene's proprietary SES utilizes metagenomic sequencing and bioinformatics to establish molecular diagnoses in patients presenting with sepsis, bacteremia or other systemic inflammatory responses of unknown etiology.


Methodology



Blood and other sterile site


Blood and other sterile site specimens are subjected to shotgun sequencing on the Illumina platform post-nucleic acid purification. Metagenomic analysis characterizes the circulating pathogenomic and identifies resistance genes by comparison against curated pathogen databases.


Key Highlights of Minagene’s (SES) of Systemic Infections


Key Highlights of Minagene’s (SES)


-Detects viruses, bacteria, fungi, parasites from whole blood


-Identifies causative organisms in culture-negative cases


-Assesses antibiotic resistance without culture-based assumptions


-Streamlines infection control by specifying pathogenic source


-Returns results within 5 days to guide targeted antimicrobials


By applying an unbiased “whole-microbiome” approach, SES addresses diagnostic challenges in sterile site infections. Simultaneous resistance profiling enables optimized, narrow-spectrum empiric therapy selection.


When to Consider


SES is recommended for evaluation of sepsis, infective endocarditis or other life-threatening systemic infections with negative conventional microbiologic workup requiring fast diagnosis.

30 Nov
Categories Diseases, Gastroenterology, Infectious Diseases, medical microbiologists, speciality









Overview


Minagene's proprietary gastrointestinal pathogen panel utilizes multiplex PCR and next-generation sequencing to simultaneously detect over 30 bacterial, viral and parasitic organisms associated with acute and chronic diarrhea.


Methodology



Stool specimens


Stool specimens are treated with a lysis buffer and nucleic acid is extracted. Hypervariable regions are amplified using tiled primers barcoded for each pathogen. Sequencing on the Illumina platform at >10,000x coverage allows for identification of variants associated with antimicrobial resistance.


Key Highlights


Key Highlights


-Identifies causative agents missed by conventional assays


-Screens for emerging enteric pathogens like Cyclospora


-Assesses antibiotic resistance of detected bacteria


-Provides results within 5 days to guide targeted therapy


-Offers cost savings compared to sequential single-target testing



With its unparalleled breadth and speed, Minagene’s stool panel streamlines the diagnostic evaluation of gastroenteritis. Genome-resolved pathogen data assists clinical decision-making and public health monitoring of infectious outbreaks.


When to Consider Minagene’s Gastrointestinal Pathogen Test


This comprehensive test is recommended for patients with severe or prolonged diarrhea, particularly in transplant, oncology or malnourished populations where opportunistic infections necessitate rapid diagnosis and isolation.

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