Hematology

05 Dec
Categories Diseases, Hematology, Oncology, speciality









Overview


Minagene's FLT3 Test is a specialized genetic test designed to provide comprehensive analysis of FLT3 mutations in patients with acute myeloid leukemia (AML). This advanced test utilizes state-of-the-art molecular techniques to detect and characterize FLT3 mutations, enabling accurate diagnosis, prognostic assessment, and personalized treatment strategies for individuals with AML.


Methodology



The FLT3 Test employs


The FLT3 Test employs cutting-edge molecular techniques, including polymerase chain reaction (PCR) and DNA sequencing, to detect and analyze FLT3 mutations. It specifically targets the FLT3 gene, which plays a critical role in the regulation of cell growth and proliferation in hematopoietic cells. By analyzing FLT3 mutations, the test provides valuable genetic information that aids in the diagnosis, risk stratification, and treatment selection for AML patients.


Key Highlights of the Test:


Key Highlights of the Test:


-Comprehensive FLT3 Mutation Analysis: Minagene’s FLT3 Test offers a comprehensive analysis of FLT3 mutations in AML patients. It detects both internal tandem duplications (ITDs) and point mutations in the FLT3 gene, including the common FLT3-ITD and FLT3-TKD mutations. This comprehensive approach ensures accurate detection and characterization of FLT3 mutations, which are crucial for clinical decision-making.


-Accurate Diagnosis and Subtyping: The FLT3 Test helps in accurate diagnosis and subtyping of AML by identifying FLT3 mutations. FLT3 mutations are commonly observed in AML and have prognostic implications. The test aids in distinguishing between different AML subtypes and provides critical information for risk stratification and treatment planning.


-Prognostic Assessment: FLT3 mutations have significant prognostic implications in AML. The FLT3 Test provides valuable prognostic information by identifying the presence and type of FLT3 mutations. It helps in risk stratification and treatment decision-making, as patients with FLT3 mutations often have poorer outcomes and may require more aggressive therapeutic approaches.


-Personalized Treatment Selection: The FLT3 Test’s genetic insights assist in personalized treatment selection for AML patients. Identification of FLT3 mutations helps in determining the eligibility for targeted therapies, such as FLT3 inhibitors, which specifically target the mutated FLT3 protein. This information guides clinicians in selecting appropriate treatment strategies to improve patient outcomes.


-Monitoring Treatment Response: The FLT3 Test can be used to monitor treatment response in AML patients with FLT3 mutations. By periodically assessing the presence and levels of FLT3 mutations, the test helps evaluate the effectiveness of targeted therapies and make necessary treatment adjustments based on the molecular response.


When to Consider This Test:


-Diagnostic Evaluation: The FLT3 Test is recommended for patients with suspected or newly diagnosed AML. It aids in accurate diagnosis and subclassification of AML by detecting FLT3 mutations, providing valuable information for risk assessment and treatment planning.


-Prognostic Assessment: The test is valuable for prognostic assessment in AML patients. FLT3 mutations are associated with poorer outcomes, and their detection helps in risk stratification and treatment decision-making.


-Treatment Selection: The FLT3 Test assists in personalized treatment selection for AML patients. Identification of FLT3 mutations determines the eligibility for targeted therapies, such as FLT3 inhibitors, which can be used as part of the treatment regimen.


-Treatment Response Monitoring: The test can be utilized for monitoring treatment response in AML patients with FLT3 mutations. It helps evaluate the effectiveness of targeted therapies and guides treatment adjustments based on the molecular response.


-Research and Clinical Trials: The FLT3 Test can be used in research studies and clinical trials focusing on AML. The test’s comprehensive analysis of FLT3 mutations contributes to a better understanding of AML biology and helps identify potential therapeutic targets.

05 Dec
Categories Genetics, 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.

05 Dec
Categories Diseases, Hematology, Immunology









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









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









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, 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 Hematology, Oncology, speciality









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:


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
Categories Hematology, Oncology








Overview


Minagene's HRR gene testing utilizes tumor and germline matched comprehensive genomic profiling to screen for mutations in homologous recombination repair genes (BRCA1, BRCA2, PALB2, etc.).



Methodology



Tissue specimens


Tissue specimens undergo nucleic acid extraction and library preparation for hybrid capture-based next generation sequencing of all clinically actionable exons/introns across 45+ key HRR genes. Proprietary bioinformatics analyze both somatic and constitutional alterations to determine eligibility for PARP and other targeted therapies.


Key Highlights of Minagene’s Homologous Recombination Repair Gene Testing


Key Highlights of Minagene’s Homologous Recombination


-Identifies defective HRR signature regardless of cancer type


-Determines germline/somatic origin of pathogenic variants


-Assesses complex genomic profiles for synthetic lethality


-Supports treatment with PARP inhibitors, platinum agents


-Improves outcomes through precision therapy selection


By using an unbiased multi-gene approach, Minagene’s solution comprehensively interrogates the HRR pathway. Matched tumor-normal analysis guides definitive targeted therapy and enrollment in investigative clinical trials.


When to Consider Minagene’s Homologous Recombination Repair Gene Testing


Physicians should order HRR testing for advanced solid tumors refractory to standard therapies, particularly ovarian and breast cancers evaluated for PARP inhibitors.