Tag Archives: Medical Genetics

Minagene’s Nephro Genetics










Overview


Minagene's Nephro Genetics is a specialized genetic testing service that focuses on the genetic factors underlying various kidney disorders. By analyzing specific genetic variants associated with renal conditions, this comprehensive test provides valuable insights into the molecular basis of kidney diseases, enabling accurate diagnosis, personalized treatment strategies, and improved patient care in the field of nephrology.


Methodology



The Nephro Genetics test utilizes


The Nephro Genetics test utilizes cutting-edge genetic analysis techniques, including next-generation sequencing and targeted genotyping, to examine genes known to be associated with kidney disorders. 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 Nephro Genetics test enables precise diagnosis by identifying genetic variants associated with various kidney disorders. By uncovering the underlying genetic factors contributing to a patient’s renal condition, 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 kidney 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 kidney disorders, including inherited kidney diseases, glomerular diseases, tubulopathies, and cystic kidney diseases, 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 kidney 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 Nephro Genetics test contributes to ongoing research efforts in the field of nephrology. By analyzing a large cohort of patients with diverse renal 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 nephrology.






When to Consider This Test:






    • Diagnostic Dilemmas: The Nephro Genetics 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 renal condition. It can provide crucial insights into the genetic basis of the disease, leading to a more accurate diagnosis and appropriate management strategies.




    • Inherited Kidney Disorders: The test is beneficial when evaluating individuals with a family history of inherited kidney diseases. 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 kidney 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 kidney 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 Nephro Genetics test contributes to ongoing research efforts and clinical trials in the field of nephrology. By participating in genetic studies, patients can help advance knowledge about kidney disorders, potentially leading to the development of new treatments and therapeutic approaches





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Minagene’s Clinical Exome V4










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.



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Minagene’s Genetics of Ophthalmic Disorders: Advancing Precision Medicine in Ophthalmology










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.



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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

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


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ExomeMax










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.



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Whole Exome Sequencing










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.

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Minagene’s Thalassemia Mutation Test










Overview


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


Methodology



The Thalassemia Mutation


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


Key Highlights of the Test:


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.

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Minagene’s Molecular Testing for Lung Cancer










Overview


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


Methodology



DNA and RNA


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


Key Highlights of Minagene’s Molecular Testing for Lung Cancer


Key Highlights of Minagene’s Molecular Testing for Lung Cancer


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


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


-Determines tumor mutation burden and microsatellite instability status


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


-Guides clinical trial enrollment and combinatorial treatment strategies


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


When to Consider Minagene’s Molecular Testing for Lung Cancer


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

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Minagene’s Germline Mutation Test for Hereditary Cancers










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.

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Minagene’s Homologous Recombination Repair Gene Testing









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.

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