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05 Dec

Diseases, Hematology, Immunology, speciality

Minagene’s Primary Immunodeficiency Gene Panel

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:

-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

Diseases, Genetics, Hematology, speciality

Minagene’s Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel

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:

-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.

-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

Diseases, Genetics, Hematology, speciality

Minagene’s Thalassemia Mutation Test

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:

-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

Diseases, Oncology, Pulmonology, speciality

Minagene’s Non-Small Cell Lung Cancer (NSCLC) Panel

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:

-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

Diseases, Hematology, Oncology, speciality

Minagene’s Comprehensive Leukemia Panel

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:

-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

Diseases, Oncology, Pulmonology, speciality

Minagene’s EGFR Gene Testing

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:

-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

Hematology, Oncology, speciality

Minagene’s NGS-based Imatinib Resistance Mutation Analysis

Overview

Minagene's NGS-based Imatinib Resistance Mutation Analysis is a specialized genetic test designed to identify specific mutations associated with resistance to Imatinib therapy in patients with Chronic Myeloid Leukemia (CML). By employing next-generation sequencing (NGS) technology and targeted gene panels, this analysis provides valuable insights into the genetic mechanisms underlying treatment resistance. The test aims to guide treatment decisions, optimize therapeutic strategies, and improve patient outcomes in CML management.

Methodology

The Imatinib Resistance

The Imatinib Resistance Mutation Analysis utilizes NGS technology to comprehensively screen relevant genes associated with Imatinib resistance in CML. Through targeted sequencing, specific mutations known to confer resistance to Imatinib are identified. The assay covers a panel of key genes involved in Imatinib response, allowing for the detection of known resistance mutations and novel variants that may impact treatment efficacy.

Key Highlights of the Test:

-Detection of Resistance Mutations: The Imatinib Resistance Mutation Analysis specifically focuses on identifying mutations known to confer resistance to Imatinib therapy. By detecting these mutations, physicians can gain valuable insights into potential treatment challenges and explore alternative therapeutic options for patients with CML.

-Personalized Treatment Decisions: The analysis provides crucial information to guide personalized treatment decisions for patients who exhibit resistance or suboptimal response to Imatinib. By understanding the specific resistance mutations present in an individual patient, physicians can tailor treatment strategies and select alternative tyrosine kinase inhibitors (TKIs) or combination therapies for improved disease control.

-Early Detection of Resistance: The test enables early detection of resistance mutations, allowing for timely intervention and adjustments in treatment regimens. By identifying resistance mechanisms at an early stage, physicians can proactively address challenges and optimize therapeutic approaches to prevent disease progression.

-Comprehensive Gene Coverage: The Imatinib Resistance Mutation Analysis covers a panel of genes associated with Imatinib response and resistance, ensuring a comprehensive evaluation of potential resistance mechanisms. This comprehensive gene coverage enhances the accuracy and reliability of the analysis, providing a deeper understanding of the genetic landscape of resistance in CML.

When to Consider This Test?

-Suboptimal Response to Imatinib: The Imatinib Resistance Mutation Analysis should be considered when patients with CML exhibit suboptimal response or treatment failure with Imatinib therapy. The test helps identify specific resistance mutations that may be responsible for the inadequate treatment response, guiding the selection of alternative therapies.

-Treatment Failure and Disease Progression: In cases of treatment failure or disease progression despite Imatinib therapy, the analysis can help elucidate the underlying genetic mechanisms driving resistance. This information is invaluable for determining appropriate therapeutic interventions and optimizing treatment strategies.

-Early Intervention: The test can be utilized proactively in patients at high risk of developing resistance to Imatinib. Early detection of resistance mutations allows for timely intervention and adjustment of treatment regimens to prevent disease progression and improve patient outcomes.

-Treatment Optimization: The Imatinib Resistance Mutation Analysis aids in optimizing treatment strategies by identifying alternative TKIs or combination therapies that may be more effective in overcoming specific resistance mutations. This personalized approach enhances treatment response and long-term disease control.

03 Dec

Diseases, Oncology, Pathology, speciality

Minagene’s OncoTrack

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:

-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

Oncology, Pathology, speciality

Minagene’s Somatic Mutation Panel

Overview

Minagene's Somatic Mutation Panel is a cutting-edge genetic evaluation tool designed to aid physicians in the assessment of somatic mutations in cancer patients. This advanced panel utilizes state-of-the-art technology and methodologies to identify and analyze genetic alterations that play a crucial role in tumor development, progression, and response to treatment. By providing comprehensive genomic profiling, the Somatic Mutation Panel offers valuable insights to guide personalized cancer care and optimize treatment strategies.

Methodology

Somatic Mutation Panel

The Somatic Mutation Panel employs next-generation sequencing (NGS) technology to analyze tumor tissue samples. It utilizes targeted gene panels specifically designed to detect somatic mutations across a wide range of cancer-associated genes. The NGS-based approach enables the simultaneous assessment of multiple genetic alterations, including single nucleotide variants (SNVs), insertions and deletions (Indels), copy number variations (CNVs), and gene fusions. By capturing and sequencing tumor-specific genomic regions, this panel allows for a comprehensive evaluation of the mutational landscape within the tumor genome.

Key Highlights of the Test

-Comprehensive Gene Coverage: Minagene’s Somatic Mutation Panel covers a broad range of cancer-associated genes, including those commonly mutated in various cancer types. This extensive gene coverage ensures a comprehensive evaluation of somatic mutations, enabling physicians to gain a deeper understanding of the genetic alterations driving the patient’s cancer.

-High Sensitivity and Specificity: The Somatic Mutation Panel utilizes advanced sequencing technologies and bioinformatics algorithms to achieve high sensitivity and specificity in mutation detection. This ensures accurate and reliable identification of somatic mutations, even at low allele frequencies, providing physicians with precise genomic information for treatment decision-making.

-Actionable Mutation Insights: The panel not only detects somatic mutations but also provides actionable insights by linking the identified genetic alterations to relevant targeted therapies, immunotherapies, and clinical trials. This information empowers physicians to make informed treatment decisions and explore personalized therapeutic options for their patients.

-Tumor Heterogeneity Assessment: The Somatic Mutation Panel enables the assessment of tumor heterogeneity by identifying subclonal mutations within the tumor. This information is crucial for understanding the tumor’s evolutionary dynamics, predicting treatment response, and monitoring disease progression.

When to Consider This Test

-Diagnosis and Subtyping: The Somatic Mutation Panel can aid in the diagnosis and classification of various cancer types by identifying specific somatic mutations associated with particular malignancies. This information helps guide treatment decisions and determine the appropriate course of action.

-Treatment Selection: The panel assists in selecting optimal targeted therapies or immunotherapies based on the identified somatic mutations and their known associations with drug response. This allows for personalized treatment selection and potentially improves patient outcomes.

-Monitoring Treatment Response: The Somatic Mutation Panel can be used to monitor the evolution of somatic mutations during the course of treatment. Serial testing can help assess treatment response, detect emerging resistance mechanisms, and guide therapeutic adjustments for improved patient management.

-Prognostic Evaluation: By analyzing somatic mutations associated with prognosis, the panel provides valuable insights into the patient’s disease trajectory, aiding in prognostic evaluation and informing long-term care plans.

03 Dec

Oncology, Pulmonology, speciality

Minagene’s Molecular Testing for Lung Cancer

Overview

Minagene's testing utilizes targeted next-generation sequencing and immunohistochemistry to detect key driver mutations, fusions and immune biomarkers in lung adenocarcinoma, squamous cell carcinoma and small cell lung cancer specimens.

Methodology

DNA and RNA

DNA and RNA isolated from formalin-fixed paraffin-embedded biopsy/resection samples undergo hybrid capture-based enrichment of over 300 lung cancer-associated genes and loci. Simultaneous protein analysis assesses PD-L1 expression levels.

Key Highlights of Minagene’s Molecular Testing for Lung Cancer

-Identifies EGFR, ALK, ROS1, BRAF, KRAS mutations for targeted therapy

-Detects rare MET, RET, HER2 alterations with matched drugs

-Determines tumor mutation burden and microsatellite instability status

-Assesses PD-L1 to predict response to immune checkpoint inhibitors

-Guides clinical trial enrollment and combinatorial treatment strategies

By applying an integrated genomic and protein-based approach, physicians can select optimal first-line and subsequent lines of targeted and immune therapies tailored to each patient’s molecular profile.

When to Consider Minagene’s Molecular Testing for Lung Cancer

Molecular testing should be ordered on all newly diagnosed lung cancers or at progression to optimize precision treatment planning based on actionable genomic alterations.

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