Oncology

05 Dec
Categories Cardiology, Diseases, Immunology, Neurology, Oncology, Pediatrics, speciality









Overview


Minagene's Clinical Exome V4 is an advanced genetic testing service that utilizes state-of-the-art sequencing technologies to analyze the protein-coding regions of the genome, known as the exome. By examining thousands of genes associated with various genetic disorders, this comprehensive test provides clinicians with valuable insights into the molecular basis of complex and rare diseases, enabling accurate diagnosis, personalized treatment strategies, and improved patient care.


Methodology



The Clinical Exome


The Clinical Exome V4 test employs next-generation sequencing techniques to capture and sequence the exonic regions of an individual’s genome. This high-throughput approach allows for the analysis of thousands of genes simultaneously, providing a broad and in-depth assessment of the genetic variants that may contribute to a patient’s condition.


Key Highlights of the Test:


Key Highlights of the Test:




  • Comprehensive Genetic Analysis: The Clinical Exome V4 test offers a comprehensive analysis of the exome, covering a vast number of disease-associated genes. By examining a wide range of genetic variants, including single nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variations (CNVs), the test provides a comprehensive view of the patient’s genetic landscape, aiding in the identification of disease-causing variants.




  • Accurate Diagnosis: The test enables accurate diagnosis by identifying pathogenic or likely pathogenic variants associated with genetic disorders. By comparing the patient’s genetic profile with a vast database of known disease-associated variants, the test helps clinicians pinpoint the underlying cause of the patient’s condition, leading to more precise diagnoses and appropriate treatment plans.




  • Personalized Treatment Strategies: The Clinical Exome V4 test assists in developing personalized treatment strategies by identifying genetic variants that may impact drug response or guide targeted therapies. By understanding an individual’s unique genetic makeup, clinicians can tailor treatment plans, select appropriate medications, and optimize therapeutic outcomes.




  • Identification of Rare and Novel Variants: The test has a particular focus on detecting rare and novel variants that may not be captured by other genetic testing methods. By exploring the exome comprehensively, it enhances the chances of identifying unique genetic variants that may be responsible for a patient’s condition, even in cases where a diagnosis was previously elusive.




  • Enhanced Variant Interpretation: Minagene’s Clinical Exome V4 benefits from advanced variant interpretation algorithms and a curated variant knowledgebase. This enables clinicians to access up-to-date information on variant pathogenicity, supporting accurate variant classification and reducing the risk of misinterpretation.




When to Consider This Test:




  • Complex and Undiagnosed Cases: The Clinical Exome V4 test is particularly valuable in complex and undiagnosed cases where the underlying cause of a patient’s condition is unclear. By conducting a comprehensive analysis of the exome, it increases the chances of identifying disease-causing variants and providing a definitive diagnosis.




  • Rare Genetic Disorders: The test is beneficial in cases suspected to have rare genetic disorders. It enables the detection of rare and novel variants associated with these conditions, aiding in accurate diagnosis, appropriate management, and genetic counseling for patients and their families.




  • Therapeutic Decision-Making: The test assists in therapeutic decision-making by identifying genetic variants that may impact drug response or guide targeted therapies. This information helps clinicians select the most suitable medications, optimize treatment plans, and improve patient outcomes.




  • Family Screening and Counseling: The Clinical Exome V4 test supports family screening and counseling for genetic disorders. By identifying disease-causing variants, it allows for the identification of at-risk family members and facilitates informed decision-making regarding family planning and genetic counseling.




  • Research and Clinical Trials: The test contributes to research efforts and clinical trials focused on genetic disorders. By participating in genetic studies, patients can help advance knowledge about rare diseases, potentially leading to the development of new treatments and therapeutic approaches.



05 Dec
Categories Cardiology, Diseases, Immunology, Neurology, Oncology, Pediatrics, speciality









Overview


Minagene's Genetics of Ophthalmic Disorders is a comprehensive genetic testing service that focuses on the genetic factors underlying various ophthalmic conditions. By analyzing specific genetic variants associated with ocular disorders, this test provides valuable insights into the molecular basis of these conditions, enabling precise diagnosis, personalized treatment strategies, and improved patient outcomes in the field of ophthalmology.


Methodology



The Genetics of Ophthalmic


The Genetics of Ophthalmic Disorders test utilizes state-of-the-art genetic analysis techniques, including next-generation sequencing and targeted genotyping, to examine genes known to be associated with different ophthalmic conditions. By analyzing an individual’s genetic profile, this test provides clinicians with valuable information regarding disease-causing variants, potential disease progression, and response to specific treatments.


Key Highlights of the Test:


Key Highlights of the Test:




  • Precise Diagnosis: The Genetics of Ophthalmic Disorders test enables precise diagnosis by identifying genetic variants associated with various ocular conditions. By uncovering the underlying genetic factors contributing to a patient’s disease, clinicians can achieve a more accurate diagnosis, leading to tailored treatment plans and improved patient management.




  • Personalized Treatment Strategies: By analyzing an individual’s genetic profile, the test helps in developing personalized treatment strategies for ophthalmic disorders. It provides insights into potential drug targets, response to specific medications, and the likelihood of disease progression, allowing clinicians to optimize treatment plans and achieve better therapeutic outcomes.




  • Identification of Disease-Causing Variants: The test identifies disease-causing genetic variants associated with a wide range of ophthalmic disorders, including inherited retinal diseases, glaucoma, cataracts, and corneal dystrophies, among others. This information helps clinicians understand the genetic basis of the disease and provides valuable guidance for patient management and counseling.




  • Proactive Disease Management: Genetic information obtained from the test allows for proactive disease management by identifying individuals at higher risk of developing certain ophthalmic disorders. This enables early intervention, regular monitoring, and the implementation of preventive measures to mitigate the progression or severity of the condition.




  • Research Advancements: The Genetics of Ophthalmic Disorders test contributes to ongoing research efforts in the field of ophthalmology. By analyzing a large cohort of patients with diverse ocular conditions, the test generates valuable data that can be used to further understand the genetic basis of these disorders, develop novel therapies, and advance the field of precision medicine in ophthalmology.




When to Consider This Test:




  • Diagnostic Dilemmas: The Genetics of Ophthalmic Disorders test is particularly valuable in cases where traditional diagnostic approaches have been inconclusive or when there is a suspicion of a genetic component underlying the ocular condition. It can provide crucial insights into the genetic basis of the disease, leading to a more accurate diagnosis and appropriate management strategies.




  • Inherited Ophthalmic Conditions: The test is beneficial when evaluating individuals with a family history of inherited ophthalmic disorders. It helps identify disease-causing genetic variants, predict disease progression, and guide treatment decisions for affected individuals and their family members.




  • Treatment Optimization: The test assists in optimizing treatment plans for ophthalmic disorders by providing information on an individual’s genetic profile and drug response. This enables clinicians to select the most appropriate medications, adjust dosages, and personalize treatment strategies to maximize therapeutic benefits.




  • Risk Assessment and Counseling: The test aids in assessing an individual’s risk of developing certain ophthalmic disorders, particularly in cases where there is a known genetic predisposition. This information allows for proactive management, genetic counseling, and the implementation of preventive measures to reduce disease risk.




  • Research and Clinical Trials: The Genetics of Ophthalmic Disorders test contributes to ongoing research efforts and clinical trials in the field of ophthalmology. By participating in genetic studies, patients can help advance knowledge about ocular conditions, potentially leading to the development of new treatments and therapeutic approaches.



05 Dec
Categories Cardiology, Diseases, Gynecology and obstetrics, Immunology, Oncology, speciality




Overview


Trio Exome Analysis is a powerful approach in the field of genetic diagnostics, specifically tailored to identify causal mutations for inherited diseases. This method utilizes next-generation sequencing (NGS) technology to simultaneously sequence the coding regions of all genes within a family pedigree, providing valuable insights into the genetic basis of the disease.


By analyzing the trio, consisting of the affected individual and both parents, Trio Exome Analysis can detect variants inherited from the parents that may cause recessive or dominant diseases. Additionally, it can identify de novo variants that arise in the offspring but are not present in either parent.


Methodology


Genomic DNA

Genomic DNA extracted from blood samples is subjected to NGS using an Illumina platform, capturing and sequencing the coding regions of all genes. The resulting sequence data is aligned and analyzed for sequence variants.


Key Highlights of the Test:


Key Highlights of the Test:




    • Diagnostic Odyssey Resolution: Trio analysis becomes instrumental in cases where alternative diagnostic techniques fail to confirm a diagnosis, providing a pathway to end the diagnostic odyssey.




    • Enhanced Patient Management: Trio analysis aids in better patient management and can facilitate prenatal diagnosis where applicable, empowering physicians to provide more targeted care.




    • Overcoming Clinical Heterogeneity: Trio Exome Analysis is particularly valuable in situations where definitive clinical diagnosis is challenging due to clinical heterogeneity, especially for rare congenital disorders where traditional methods fall short in identifying the causal variant.




    Trio Exome Analysis, utilizing whole exome or clinical exome sequencing, enables the simultaneous analysis of thousands of genes. This approach allows for the identification of various genetic alterations, including insertions/deletions (indels), single nucleotide variants (SNVs), and copy number variations (CNVs). Moreover, this familial analysis-based approach assists in excluding variants that do not conform to Mendelian transmission, reducing false positive calls and narrowing down potential candidate variants.




  • Compared to analyzing only the proband, the overall diagnostic yield of Trio Exome Analysis utilizing exome sequencing has shown a 5-10% increase, emphasizing its significant contribution to genetic diagnostics.




Situations Where Trio Exome Test Can Be Used:

The Trio Exome Test is recommended when an individual’s medical examination, laboratory findings, and family history suggest an underlying genetic etiology. Here are some scenarios where the test can be valuable:




  • Undiagnosed Genetic Diseases: When extensive evaluation and multiple genetic tests fail to identify the cause of a genetic disease, Trio Exome Analysis can provide valuable insights for diagnosis.




  • Medical Intervention and Treatment: Trio analysis can facilitate medical intervention, treatment planning, and personalized care based on the identified genetic variants.




  • Reproductive Planning and Recurrence Risk Assessment: Trio Exome Analysis aids in guiding reproductive planning and assessing the risk of recurrence for genetically heterogeneous diseases, where multiple genes can cause the same disease or condition.




  • Prognosis and Family History: Trio analysis also plays a role in prognosis, particularly when considering family history and its implications for disease management and treatment.




  • By leveraging Trio Exome Analysis, physicians can unlock a deeper understanding of inherited diseases, leading to improved patient care, earlier interventions, and more informed reproductive counseling.





Minagene's Trio Exome Test


Overview
Trio Exome Analysis is a powerful approach in the field of genetic diagnostics, specifically tailored to identify causal mutations for inherited diseases. This method utilizes next-generation sequencing (NGS) technology to simultaneously sequence the coding regions of all genes within a family pedigree, providing valuable insights into the genetic basis of the disease.

By analyzing the trio, consisting of the affected individual and both parents, Trio Exome Analysis can detect variants inherited from the parents that may cause recessive or dominant diseases. Additionally, it can identify de novo variants that arise in the offspring but are not present in either parent.

Methodology
Genomic DNA extracted from blood samples is subjected to NGS using an Illumina platform, capturing and sequencing the coding regions of all genes. The resulting sequence data is aligned and analyzed for sequence variants.

Key Highlights of Minagene’s NIPT


  • Diagnostic Odyssey Resolution: Trio analysis becomes instrumental in cases where alternative diagnostic techniques fail to confirm a diagnosis, providing a pathway to end the diagnostic odyssey.



  • Enhanced Patient Management: Trio analysis aids in better patient management and can facilitate prenatal diagnosis where applicable, empowering physicians to provide more targeted care.



  • Overcoming Clinical Heterogeneity: Trio Exome Analysis is particularly valuable in situations where definitive clinical diagnosis is challenging due to clinical heterogeneity, especially for rare congenital disorders where traditional methods fall short in identifying the causal variant.



  • Compared to analyzing only the proband, the overall diagnostic yield of Trio Exome Analysis utilizing exome sequencing has shown a 5-10% increase, emphasizing its significant contribution to genetic diagnostics.



  • The Trio Exome Test is recommended when an individual’s medical examination, laboratory findings, and family history suggest an underlying genetic etiology. Here are some scenarios where the test can be valuable:



  • Undiagnosed Genetic Diseases: When extensive evaluation and multiple genetic tests fail to identify the cause of a genetic disease, Trio Exome Analysis can provide valuable insights for diagnosis.



  • Medical Intervention and Treatment: Trio analysis can facilitate medical intervention, treatment planning, and personalized care based on the identified genetic variants.



  • Reproductive Planning and Recurrence Risk Assessment: Trio Exome Analysis aids in guiding reproductive planning and assessing the risk of recurrence for genetically heterogeneous diseases, where multiple genes can cause the same disease or condition.



  • Prognosis and Family History: Trio analysis also plays a role in prognosis, particularly when considering family history and its implications for disease management and treatment.



  • By leveraging Trio Exome Analysis, physicians can unlock a deeper understanding of inherited diseases, leading to improved patient care, earlier interventions, and more informed reproductive counseling.



Diseases


  • Prader-Willi Syndrome



  • Angelman Syndrome



  • Digeorge Syndrome



  • Cystic Fibrosis



  • Spinal Muscular Atrophy



  • Fragile X Syndrome



  • Beta Thalassemia



  • Sickle Cell Disease/Trait



  • Congenital Adrenal Hyperplasia



  • Alpha Thalassemia



  • Intellectual disability



  • Congenital glaucoma



  • Bardet–Biedl syndrome



  • Meckel– Gruber syndrome



  • organic acidaemia



  • lysosomal storage disorders



  • retinal dystrophies



  • Hearing loss and primary microcephaly



  • Thrombocytopenia



  • Spherocytosis



  • Hemolytic anemia



  • G6PD deficient



  • C6 deficiency



  • Aminoacylase 1 deficiency



  • Sitosterolemia 2



  • Chronic granulomatous disease


05 Dec
Categories Cardiology, Diseases, Immunology, Neurology, Oncology, Pediatrics, speciality









Overview


Minagene's ExomeMax is a comprehensive genetic evaluation tool designed to enhance diagnostic outcomes by providing improved coverage of disease-associated genes. With an inclusive design and expert augmentation, ExomeMax offers a thorough assessment of inherited disease genes, taking into account the constantly evolving genotype-phenotype associations in the field of genetics.


Key Highlights of Minagene's ExomeMax:



Key Highlights of Minagene's ExomeMax:




  • Enhanced Gene Coverage: ExomeMax includes coverage of alternate gene transcripts (MANE, GENCODE, REFSEQ), ensuring a comprehensive evaluation of disease-associated genes.




  • Non-Coding Pathogenic Variant Coverage: ExomeMax incorporates coverage of non-coding pathogenic variants sourced from HGMD/ClinVar, enabling a more thorough assessment of genetic variations.




  • Complete Mitochondrial Genome Coverage: ExomeMax provides 100% coverage of the mitochondrial genome, allowing for a comprehensive analysis of mitochondrial genetic disorders.




  • ML-Powered Variant Analysis: Variant analysis is powered by machine learning (ML) algorithms, ensuring robust and accurate interpretation of genetic variants. The results are reviewed by certified Clinical Geneticists, adding an additional layer of expertise.




  • Extensive Validation and Proficiency Testing: ExomeMax undergoes extensive validation and proficiency testing, including CAP proficiency testing, to ensure consistency, validity, and accuracy of the results.




  • Specialized Probes for Superior Detection: ExomeMax utilizes specialized probes that enhance the detection of single nucleotide variants (SNVs) and copy number variants (CNVs), improving the sensitivity and specificity of the test.




  • Panel Size and Coverage: ExomeMax covers a panel size of 47 Mb, encompassing over 20,000 genes and more than 210,000 exons.




When to Consider an ExomeMax Test:




  • Clinical Findings or Family History: ExomeMax should be considered when clinical findings or family history suggest an underlying genetic cause for a patient’s condition.




  • Genetically Heterogeneous Diseases: ExomeMax is valuable for screening genetically heterogeneous diseases, where multiple genes can contribute to the same disease or condition.




  • Undiagnosed Genetic Diseases: In cases of undiagnosed genetic diseases, where patients have undergone a diagnostic odyssey without a clear diagnosis, ExomeMax can provide valuable insights.




  • Medical Intervention and Treatment: ExomeMax can facilitate medical intervention and treatment planning based on the identified genetic variants.




  • Confirmation of Suspected Genetic Diagnosis: When there is a suspected genetic diagnosis, ExomeMax can confirm the presence of the suspected genetic variant.




  • Reproductive Planning and Recurrence Risk Assessment: ExomeMax aids in guiding reproductive planning by assessing the risk of recurrence for inherited conditions and providing valuable insights for family planning.




  • Prognosis and Family History: ExomeMax can contribute to determining prognosis based on family history, providing valuable information for disease management and treatment decisions.




Validation




  • ExomeMax undergoes requisite quality controls throughout the workflow, from laboratory sample processing to interpretation, ensuring consistency, validity, and accuracy of the results. The analytical sensitivity of ExomeMax is supported by NIST reference standard NA12878, with a high sensitivity for SNPs (99%) and Indels (96.2%). Copy number variant (CNV) pipeline is evaluated using orthogonally validated methods. Minagene’s proprietary ML-enabled analysis tool is utilized, and the results are reviewed by certified clinical geneticists.




  • Minagene’s ExomeMax provides physicians with a comprehensive and accurate genetic evaluation tool, enabling precise diagnoses, improved patient management, and enhanced reproductive planning.



05 Dec
Categories Cardiology, Diseases, Immunology, Neurology, Oncology, Pediatrics, speciality









Overview


Whole Exome Sequencing (WES) is a genomic test that examines the complete coding region of the genome, including all coding regions and splice junctions. Unlike targeted gene panels, WES analyzes variations in the protein-coding region of any gene, offering a broader scope for identifying disease-causing mutations. Since most known disease-causing mutations occur in exons, WES is often more effective than whole genome sequencing.


Methodology



Next Generation Sequencing (NGS)


Genomic DNA extracted from blood is used to simultaneously capture and sequence the coding regions of all genes on an Illumina platform. The resulting sequence data is then aligned and analyzed to identify sequence variants.


Key Highlights of the Test:


Key Highlights of the Test:


-Patients with a combination of symptoms that do not provide a precise diagnosis or phenotype of a suspected genetic disease.


-Cases where a delayed differential diagnosis could have a significant impact on the patient’s quality of life.


-Situations where a stepwise diagnostic approach would be costly and time-consuming.


-When physicians are unable to provide a plausible diagnosis based on the presented symptoms.


-When no other available techniques can confirm the diagnosis and put an end to the diagnostic odyssey.


Whole Exome Sequencing offers a comprehensive analysis of the coding regions of the genome, providing valuable insights into genetic diseases and enabling physicians to make more accurate diagnoses for their patients.

05 Dec
Categories Clinical Pharmacology, Oncology, speciality









Overview


Minagene's Oncopharmacogenomics of Thiopurines is a specialized genetic test designed to optimize the safety and efficacy of thiopurine-based cancer treatments. By analyzing specific genetic variants involved in drug metabolism and response, this test provides valuable insights that enable personalized treatment strategies, minimizing toxicity and maximizing therapeutic benefits for patients.


Methodology



The Oncopharmacogenomics


The Oncopharmacogenomics of Thiopurines test utilizes advanced genetic analysis techniques, including high-throughput sequencing and genotyping, to analyze specific genetic variants associated with thiopurine metabolism and drug response. It focuses on genes involved in drug activation, metabolism, and target interactions, providing a comprehensive assessment of an individual’s pharmacogenomic profile.


Key Highlights of the Test:


Key Highlights of the Test:


-Personalized Treatment Optimization: The Oncopharmacogenomics of Thiopurines test enables personalized treatment optimization by identifying genetic variants that influence drug metabolism and response to thiopurines. This information helps clinicians tailor treatment regimens, adjust dosages, and enhance treatment efficacy while minimizing the risk of adverse effects.


-Identification of Variants in Drug-Metabolizing Enzymes: The test identifies genetic variants in key drug-metabolizing enzymes, such as thiopurine S-methyltransferase (TPMT) and nucleoside diphosphate-linked moiety X-type motif 15 (NUDT15). Variants in these enzymes can affect thiopurine metabolism, leading to altered drug efficacy and increased risk of toxicity. By detecting these variants, the test helps identify patients at higher risk of adverse effects and guides treatment decisions accordingly.


-Prediction of Drug Response and Efficacy: Genetic variants in drug target genes, such as thiopurine methyltransferase (TPMT) and inosine triphosphatase (ITPA), can influence drug response and efficacy. The test evaluates these variants, providing valuable information on treatment response likelihood and guiding clinicians in selecting the most appropriate therapeutic approach.


-Risk Stratification for Toxicity: By identifying genetic variants associated with increased drug toxicity, the test enables risk stratification for thiopurine-related adverse effects. This information assists healthcare professionals in making informed decisions regarding treatment selection, dosing adjustments, and proactive monitoring of patients at higher risk of toxicity.


-Clinical Decision Support: The Oncopharmacogenomics of Thiopurines test serves as a valuable tool for clinical decision-making. It provides actionable information that helps healthcare professionals optimize treatment plans, choose the most suitable thiopurine-based therapies, and minimize the risk of adverse drug reactions during cancer treatment.


When to Consider This Test:


-Treatment Planning: The Oncopharmacogenomics of Thiopurines test is particularly valuable during treatment planning for cancer patients who are candidates for thiopurine-based therapies. It helps identify genetic variants that may affect drug metabolism and response, enabling personalized treatment strategies to optimize therapeutic outcomes.


-Risk Assessment for Toxicity: The test is beneficial for assessing an individual’s risk of developing severe side effects associated with thiopurine-based treatments. By identifying genetic variants in drug-metabolizing enzymes, such as TPMT and NUDT15, clinicians can proactively stratify patients and implement appropriate measures to minimize toxicity.


-Treatment Response Prediction: The test aids in predicting treatment response and efficacy by evaluating genetic variants in drug target genes, such as TPMT and ITPA. This information helps guide treatment decisions and optimize therapeutic benefits for patients undergoing thiopurine-based cancer treatments.


-Dosing Optimization: Genetic information obtained from the test assists in optimizing drug dosing strategies for thiopurine-based therapies. By considering an individual’s pharmacogenomic profile, clinicians can adjust dosages to achieve the desired treatment effect while minimizing the risk of adverse drug reactions.


-Enhanced Safety Monitoring: The test supports enhanced safety monitoring for patients receiving thiopurine-based treatments. By identifying individuals with genetic variants associated with increased drug toxicity, clinicians can implement proactive monitoring and take appropriate measures to ensure patient safety.

05 Dec
Categories Clinical Pharmacology, Oncology, speciality









Overview


Minagene's Oncopharmacogenomics of Fluoropyrimidines is a specialized test that utilizes advanced genetic analysis to personalize treatment with fluoropyrimidine-based chemotherapy drugs. By examining the genetic variants associated with drug metabolism and response, this test helps optimize treatment regimens, minimize toxicity, and improve therapeutic outcomes for cancer patients.


Methodology



The Oncopharmacogenomics


The Oncopharmacogenomics of Fluoropyrimidines test employs high-throughput sequencing and genotyping techniques to analyze specific genetic variants that influence the metabolism and response to fluoropyrimidine-based chemotherapy drugs. It focuses on genes involved in drug activation, metabolism, and drug target interactions, allowing for a comprehensive assessment of an individual’s pharmacogenomic profile.


Key Highlights of the Test:


Key Highlights of the Test:


-Personalized Treatment Approach: The Oncopharmacogenomics of Fluoropyrimidines test enables personalized treatment approaches by identifying genetic variants that impact drug metabolism and response. This information helps clinicians optimize drug selection, dosage, and treatment duration for individual patients, enhancing treatment efficacy while minimizing the risk of adverse effects.


-Identification of Variants in Drug-Metabolizing Enzymes: The test identifies genetic variants in drug-metabolizing enzymes, such as dihydropyrimidine dehydrogenase (DPD), which plays a crucial role in the metabolism of fluoropyrimidines. Variants in DPD can result in reduced enzyme activity, leading to increased drug toxicity. By detecting these variants, the test helps identify patients at higher risk of developing severe side effects.


-Prediction of Drug Response and Efficacy: Genetic variants in drug target genes, such as thymidylate synthase (TYMS), can influence drug response and efficacy. The test assesses these variants, providing valuable information on the likelihood of treatment response and helping guide treatment decisions to maximize therapeutic benefits.


-Risk Stratification for Toxicity: By identifying genetic variants associated with increased drug toxicity, the test aids in risk stratification for fluoropyrimidine-related adverse effects. This helps clinicians make informed decisions regarding treatment selection, dosage adjustments, and proactive monitoring of patients at higher risk of toxicity.


-Clinical Decision Support: The Oncopharmacogenomics of Fluoropyrimidines test serves as a valuable tool for clinical decision-making. It provides actionable information that assists healthcare professionals in selecting the most appropriate treatment options, optimizing dosing strategies, and minimizing the potential for adverse drug reactions during fluoropyrimidine-based chemotherapy.


When to Consider This Test:


-Treatment Planning: The Oncopharmacogenomics of Fluoropyrimidines test is particularly valuable during treatment planning for cancer patients who are candidates for fluoropyrimidine-based chemotherapy. It helps identify genetic variants that may impact drug metabolism and response, enabling personalized treatment strategies to optimize therapeutic outcomes.


-Risk Assessment for Toxicity: The test is beneficial for assessing an individual’s risk of developing severe side effects associated with fluoropyrimidine-based chemotherapy. By identifying genetic variants in drug-metabolizing enzymes, such as DPD, clinicians can proactively stratify patients and implement appropriate measures to minimize toxicity.


-Treatment Response Prediction: The test aids in predicting treatment response and efficacy by evaluating genetic variants in drug target genes, such as TYMS. This information helps guide treatment decisions and optimize therapeutic benefits for patients undergoing fluoropyrimidine-based chemotherapy.


-Dosing Optimization: Genetic information obtained from the test assists in optimizing drug dosing strategies for fluoropyrimidine-based chemotherapy. By considering an individual’s pharmacogenomic profile, clinicians can adjust dosages to achieve the desired treatment effect while minimizing the risk of adverse drug reactions.


-Enhanced Safety Monitoring: The test supports enhanced safety monitoring for patients receiving fluoropyrimidine-based chemotherapy. By identifying individuals with genetic variants associated with increased drug toxicity, clinicians can implement proactive monitoring and take appropriate measures to ensure patient safety.

05 Dec
Categories Oncology, Pathology, speciality









Overview


Minagene's Tumor Mutation Burden (TMB) Test is a specialized genetic test designed to assess the genomic instability of tumors by measuring the tumor mutation burden. This advanced test utilizes high-throughput sequencing techniques to analyze the number of somatic mutations present in the tumor genome, providing valuable insights into tumor biology, prognosis, and potential response to immunotherapies.


Methodology



The TMB Test employs


The TMB Test employs next-generation sequencing (NGS) technology to analyze the tumor genome and detect somatic mutations. It assesses the total number of non-synonymous somatic mutations, including base substitutions, insertions, and deletions, across a broad range of genes. By quantifying the mutation burden, the test provides a measure of genomic instability and potential neoantigen formation in the tumor.


Key Highlights of the Test:


Key Highlights of the Test:




  • -Comprehensive Genomic Instability Assessment: Minagene’s TMB Test offers a comprehensive analysis of genomic instability by quantifying the tumor mutation burden. It assesses the total number of somatic mutations, including both high and low allele frequency variants, providing a more comprehensive understanding of the tumor’s genetic landscape.


    -Prognostic and Predictive Value: TMB has emerged as a valuable biomarker with prognostic and predictive value in cancer. High TMB has been associated with increased response rates to immune checkpoint inhibitors and improved survival outcomes in certain cancer types. The TMB Test helps identify patients who may benefit from immunotherapy and informs treatment decisions.


    -Prediction of Immunotherapy Response: TMB is recognized as a potential biomarker for predicting response to immune checkpoint inhibitors, such as PD-1/PD-L1 inhibitors. The TMB Test provides valuable information on the tumor’s mutational load, enabling clinicians to identify patients with a higher likelihood of benefiting from immunotherapeutic approaches.


    -Complementary Biomarker: TMB assessment complements other biomarkers, such as PD-L1 expression, in guiding immunotherapy treatment decisions. The combination of TMB and PD-L1 expression analysis provides a more comprehensive understanding of a patient’s potential response to immune checkpoint inhibitors.


    -Research and Clinical Trials: The TMB Test can be used in research studies and clinical trials focusing on cancer. The test’s comprehensive analysis of the tumor genome and assessment of genomic instability contribute to a better understanding of tumor biology and the development of targeted therapies.




When to Consider This Test:


-Treatment Decision-Making: The TMB Test is considered when making treatment decisions, especially for patients with advanced or metastatic cancer. It helps identify patients who may benefit from immunotherapy, particularly immune checkpoint inhibitors, by predicting potential treatment response based on the tumor’s mutation burden.


-Prognostic Assessment: The test aids in prognostic assessment by evaluating the tumor’s genomic instability. High TMB has been associated with improved survival outcomes in certain cancer types, providing valuable prognostic information for patient management.


-Immunotherapy Response Prediction: The TMB Test is valuable for predicting response to immune checkpoint inhibitors. Patients with high TMB are more likely to respond to immunotherapeutic approaches, making the test useful in guiding treatment decisions and optimizing patient outcomes.


-Combination Biomarker Analysis: TMB assessment complements other biomarkers, such as PD-L1 expression, in guiding immunotherapy treatment decisions. Combined analysis of TMB and PD-L1 expression provides a more comprehensive understanding of a patient’s potential response to immune checkpoint inhibitors.


-Research and Clinical Trials: The TMB Test can be utilized in research studies and clinical trials focusing on cancer. The comprehensive genomic analysis provided by the test contributes to a better understanding of tumor biology, treatment response, and the development of personalized therapies.

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 Diseases, Oncology, Pulmonology









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.