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.










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.










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










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.










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.










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.










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


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.










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


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.










Overview


Minagene offers extensive hereditary cancer panels using hybrid capture-based Next Generation Sequencing to screen for pathogenic variants in high, moderate and low-risk susceptibility genes.


Methodology



Patient DNA


Patient DNA extracted from whole blood is simultaneously enriched for all coding exons across a wide spectrum of hereditary breast, ovarian, colorectal, gastric, melanoma and other syndromes. Proprietary analysis identifies risk-associated constitutional mutations.


Key Highlights of Minagene’s Germline Mutation Test for Hereditary Cancers


Key Highlights of Minagene’s Germline Mutation Test for Hereditary Cancers


-Comprehensively screens multi-gene hereditary cancer panels


-Determines lifetime risk projections for improved screening/prevention


-Identifies candidates for targeted therapies and clinical trials


-Allows risk-reducing surgeries or increased surveillance for at-risk relatives


-Features pre/post-test genetic counseling support


By adopting a genome-wide approach, clinicians can definitively assess hereditary cancer predisposition. Identification of pathogenic variants guides optimizing patient and familial management strategies.


When to Consider Minagene’s Germline Mutation Test for Hereditary Cancers


Physicians should order germline testing for cancer patients with strong family histories, early-onset and multiple primary diagnoses to investigate underlying genetic etiologies and inform personalized care.










Overview


Minagene's test utilizes targeted next-generation sequencing and array-based platforms to comprehensively detect somatic mutations, chromosomal rearrangements, and gene expression signatures in leukemia, lymphoma and myeloma specimens.


Methodology



DNA and RNA


DNA and RNA are extracted from bone marrow, peripheral blood or tissue samples and processed for hybrid capture-based targeted sequencing of over 300 genes recurrently implicated in hematological cancers. Custom FISH/aCGH panels interrogate recurring translocations.


Key Highlights of Minagene’s Molecular Testing for Hematological Malignancies


Key Highlights of Minagene’s Molecular Testing for Hematological Malignancies


-Establishes definitive diagnoses for ambiguous morphologies


-Determines prognostic risk stratification and subtype classification


-Identifies targets for specific small molecule inhibitors and immunotherapies


-Monitors for minimal residual disease during and after treatment


-Features a CLIA-certified, CAP-accredited laboratory


By applying a multimodal genomic approach, clinicians can optimize therapeutic strategies from diagnosis through remission monitoring. Comprehensive mutational profiling assists clinical decision-making at all stages of care.


When to Consider Minagene’s Molecular Testing for Hematological Malignancies


Physicians should order Minagene’s molecular testing at initial workup of suspected hematological cancers as well as during surveillance and relapse to elucidate resistance mechanisms, guide clinical trial selection, and personalize management.

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