Genetics

05 Dec
Categories Genetics, Hematology, Immunology, speciality

Minagene’s Primary Immunodeficiency Gene Panel










Overview


Minagene's Primary Immunodeficiency Gene Panel is a specialized genetic test designed to provide a comprehensive analysis of genetic mutations associated with primary immunodeficiency disorders. This advanced panel utilizes next-generation sequencing (NGS) technology to analyze a panel of genes involved in immune system function, allowing for precise diagnosis, personalized treatment strategies, and informed genetic counseling for individuals with primary immunodeficiency disorders.


Methodology



The Primary Immunodeficiency


The Primary Immunodeficiency Gene Panel employs targeted NGS technology to sequence a panel of genes known to be associated with primary immunodeficiency disorders. The panel covers a wide range of genes involved in immune system development, function, and regulation. By analyzing these genes, the panel provides a comprehensive genetic profile that helps identify specific genetic mutations contributing to primary immunodeficiency disorders, guiding accurate diagnosis and personalized management.


Key Highlights of the Test:


Key Highlights of the Test:


-Comprehensive Genetic Evaluation: The Primary Immunodeficiency Gene Panel offers a comprehensive evaluation of genetic mutations associated with primary immunodeficiency disorders. It analyzes key genes involved in immune system function and regulation, including immunoglobulin genes, cytokine receptors, and genes associated with T and B cell development. This comprehensive approach enables the identification of potential causative genetic mutations, aiding in accurate primary immunodeficiency disorder diagnosis.


-Precise Diagnosis: By identifying specific genetic mutations, the panel facilitates precise diagnosis and differentiation between different subtypes of primary immunodeficiency disorders. It helps categorize disorders such as common variable immunodeficiency (CVID), severe combined immunodeficiency (SCID), and selective antibody deficiencies, allowing for more targeted management strategies.


-Personalized Treatment Selection: The panel’s genetic insights assist in personalized treatment selection for individuals with primary immunodeficiency disorders. By identifying specific genetic mutations, the panel helps guide treatment decisions, including immunoglobulin replacement therapy, hematopoietic stem cell transplantation (HSCT), targeted therapies, or gene therapy based on the underlying genetic abnormalities.


-Prognostic Assessment: The Primary Immunodeficiency Gene Panel provides valuable prognostic information by identifying genetic mutations associated with disease severity and clinical outcomes. This information aids in risk stratification and treatment planning, allowing clinicians to optimize therapeutic interventions and improve patient prognosis.


-Genetic Counseling and Family Screening: The genetic information obtained from the panel can be used for genetic counseling and family screening. It helps identify family members who may carry pathogenic mutations associated with primary immunodeficiency disorders, enabling early detection and intervention in at-risk individuals.


When to Consider This Test:


-Diagnostic Evaluation: The Primary Immunodeficiency Gene Panel is recommended for individuals suspected of having primary immunodeficiency disorders, particularly in cases where there is a history of recurrent, severe, or unusual infections. The panel aids in precise diagnosis and differentiation between different subtypes of primary immunodeficiency disorders.


-Personalized Treatment Planning: The test is valuable for personalized treatment planning in individuals with primary immunodeficiency disorders. By identifying specific genetic mutations, the panel helps guide treatment decisions, including the selection of appropriate immunoglobulin replacement therapies, HSCT, targeted therapies, or gene therapy based on the underlying genetic abnormalities.


-Prognostic Assessment: The panel’s genetic insights assist in prognostic assessment by identifying genetic mutations associated with disease severity and clinical outcomes. This information aids in risk stratification and treatment planning, enabling clinicians to optimize therapeutic interventions and improve patient prognosis.


-Genetic Counseling and Family Screening: The panel’s results can be used for genetic counseling and family screening. It helps identify family members who may carry pathogenic mutations associated with primary immunodeficiency disorders, facilitating early detection and intervention in at-risk individuals.


-Research and Clinical Trials: The Primary Immunodeficiency Gene Panel can be utilized in research studies and clinical trials focusing on primary immunodeficiency disorders. The panel’s comprehensive genetic profiling may contribute to a better understanding of the genetic basis of these disorders and help identify potential therapeutic targets.

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05 Dec
Categories Diseases, Genetics, Hematology, speciality

Minagene’s Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel










Overview


Minagene's Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel is a specialized genetic test designed to provide comprehensive genetic information for precise diagnosis and management of HLH. This panel utilizes advanced next-generation sequencing (NGS) technology to analyze a panel of genes associated with HLH, enabling clinicians to identify causative genetic mutations and guide personalized treatment strategies for improved patient outcomes.


Methodology



The HLH Gene Panel


The HLH Gene Panel utilizes targeted NGS technology to sequence selected genes known to be associated with HLH. The panel covers a wide range of genes involved in immune dysregulation, cytokine signaling, and cytotoxicity pathways. By analyzing these genes, the panel provides a comprehensive genetic profile that helps identify specific genetic mutations contributing to HLH, guiding accurate diagnosis and personalized management.


Key Highlights of the Test:


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.

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05 Dec
Categories Diseases, Genetics, Hematology, speciality

Minagene’s Thalassemia Mutation Test










Overview


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


Methodology



The Thalassemia Mutation


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


Key Highlights of the Test:


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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03 Dec
Categories Genetics, Oncology, speciality

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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29 Nov
Categories Diseases, Genetics, Gynecology and obstetrics, speciality

Minagene’s Preimplantation Genetic Testing










Overview


Minagene offers comprehensive preimplantation genetic testing (PGT) utilizing next-generation sequencing and advanced bioinformatics. PGT screens embryos for aneuploidies (PGT-A), monogenic disorders (PGT-M), and structural rearrangements (PGT-S) to select the most euploid, mutation-free embryos for uterine transfer.


Methodology



Blastocyst biopsy


Blastocyst biopsy on day 5 post-fertilization maximizes trophectoderm sampling without compromising development. Whole genome amplification and massively parallel sequencing precisely genotype all 24 chromosomes and interrogate pathogenic mutations at >20,000X coverage. Proprietary algorithms minimize artifacts to assure diagnostic accuracy.


Trophectoderm biopsy on day 5 maximizes both viable cell cohort and developmental synchrony for accurate results, safely avoiding risk to the inner cell mass. This enhances live birth rates better than earlier biopsies.


Why Screening is Critical


Aneuploidy is the leading


Aneuploidy is the leading cause of implantation failure and miscarriage. Without PGT, embryos transferred harbor an up to 75% risk of chromosome abnormalities undetectable by morphology alone. Screening identifies the healthiest embryos most likely to achieve live birth.


Why preimplantation genetic testing?


PGT optimizes ART


PGT optimizes ART success by selecting euploid embryos not carrying specific familial gene mutations for transfer. This alleviates repeated IVF cycles, miscarriages, termination of affected pregnancies, and liveborn offspring requiring lifelong care for genetic diseases.


Highlights of Minagene's preimplantation genetic testing (PGT)


Minagene’s PGT detects all 24 chromosome aneuploidies as well as over 1500 single gene disorders. It resolves structural variants and screens for unmatched maternal contamination with exact precision.


When to Consider Minagene’s preimplantation genetic testing (PGT)


Minagene’s preimplantation genetic



  •  Couples undergoing IVF

  •  Patients at any age who have had repeated implantation failure or recurrent pregnancy loss while undergoing IVF

  •  Women over 35 years old undergoing IVF

  •  Couples with recurrent miscarriages

  •  Positive history of chromosomal abnormalities in the family

  •  Diagnosed carriers of chromosomal aberrations

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