Blog

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.

Read More
03 Dec
Categories Hematology, Oncology, speciality

Minagene’s Molecular Testing for Hematological Malignancies










Overview


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


Methodology



DNA and RNA


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


Key Highlights of Minagene’s Molecular Testing for Hematological Malignancies


Key Highlights of Minagene’s Molecular Testing for Hematological Malignancies


-Establishes definitive diagnoses for ambiguous morphologies


-Determines prognostic risk stratification and subtype classification


-Identifies targets for specific small molecule inhibitors and immunotherapies


-Monitors for minimal residual disease during and after treatment


-Features a CLIA-certified, CAP-accredited laboratory


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


When to Consider Minagene’s Molecular Testing for Hematological Malignancies


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

Read More
03 Dec
Categories medical microbiologists, Oncology, speciality

Minagene’s Comprehensive Tumor Gene Panel










Overview


Minagene's panel utilizes hybrid capture-based next-generation sequencing to simultaneously evaluate over 500 cancer-related genes from solid tumor specimens. This identifies clinically relevant genomic alterations to guide targeted therapy selection.


Methodology



Tumor DNA


Tumor DNA undergoes library preparation prior to enrichment of all coding exons across key oncogenes and tumor suppressors. Paired formalin-fixed paraffin-embedded and frozen tissue is supported. Whole exome sequencing is available based on indications.


Key Highlights of

Minagene’s NIPT


1. Comprehensive Fetal Genome Analysis:


-Interrogates both common and rare driver mutations


-Detects microsatellite instability and tumor mutational burden


-Determines homologous recombination deficiency status


-Identifies comprehensive genomic profiles


-Supports enrollment in matched clinical trials


By applying an unbiased genomic approach, clinicians gain a thorough understanding of pathogenic alterations to maximize treatment effectiveness through precision medicine paradigms.


When to Consider Minagene’s Comprehensive Tumor Gene Panel


Physicians should order Minagene's comprehensive panel for advanced solid tumors, particularly where standard therapies have failed, to guide selection of matched targeted agents and immunotherapies.

Read More
03 Dec
Categories Hematology, Oncology, speciality

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.

Read More
03 Dec
Categories Gynecology and obstetrics, Oncology, speciality

Minagene’s BRCA










Methodology



BRCA gene testing


BRCA gene testing utilizes Next Generation Sequencing (NGS) based genomic DNA analysis to identify multiple harmful mutations. This comprehensive approach covers various mutations, including single nucleotide variations (SNVs), short insertions and deletions (InDels), structural variants, and copy number variations.


Mutations Covered


The test covers 100% of the BRCA1 and BRCA2 genes. It demonstrates high sensitivity and specificity in detecting SNVs and InDels, achieving an accuracy rate of 100%.


Personal history


-Breast or ovarian cancer diagnosed at a young age (premenopausal)


-Bilateral breast cancer (affecting both breasts)


-Presence of both ovarian and breast cancer


Family history


Family history


-Breast, ovarian, fallopian tube, peritoneal, prostate, or pancreatic cancer in family members


-Male family member with breast cancer


-A relative with a known deleterious mutation in BRCA1 or BRCA2 genes


-Breast cancer diagnosed below the age of 45


-Bilateral breast cancer in a family member below the age of 50


-Triple-negative breast cancer below the age of 60 with or without family history


-Two or more relatives with ovarian cancer


-Both breast and ovarian cancers in either the same woman or the same family


BRCA gene testing provides a comprehensive assessment of harmful mutations in the BRCA1 and BRCA2 genes. By identifying individuals at risk, this testing can guide medical management decisions, facilitate early detection, and improve patient outcomes.

Read More
03 Dec
Categories Diseases, Infectious Diseases, Pulmonology, speciality

Minagene’s Tuberculosis Diagnostics Solution










Overview


Minagene's proprietary solution utilizes whole-genome sequencing directly from sputum and other clinical samples to rapidly detect Mycobacterium tuberculosis complex and identify genetic mutations associated with drug resistance.


Methodology



Specimens undergo phenol-chloroform


Specimens undergo phenol-chloroform extraction followed by Nextera XT library preparation and Illumina sequencing. A curated pathogen database enables identification of Mtb from sequencing reads. Algorithms further characterize resistance-conferring variants across all anti-TB drug targets.


Key Highlights of Minagene’s Tuberculosis Diagnostics Solution


Key Highlights of Minagene’s


-Detects Mtb directly from specimens in hours, not weeks


-Sensitively identifies non-tuberculous mycobacteria


-Assesses mutations for all first and second-line drugs


-Predicts multidrug resistant/extensively drug resistant profiles


-Guides early optimization of personalized treatment regimens


By applying an unbiased meta’omic approach, this solution resolves diagnostic delays impairing TB control. Rapid resistance data supports effective empiric therapy selection while limiting further transmission of resistant strains.


When to Consider Minagene’s Tuberculosis Diagnostics Solution


Physicians should utilize Minagene's sequencing-based TB diagnostic in confirmed or suspected cases where rapid anti-microbial stewardship is paramount to improving patient outcomes and public health.

Read More
03 Dec
Categories Diseases, Infectious Diseases, Metabolic Medicine, speciality

Minagene’s Syndrome Evaluation System (SES) of Systemic Infections










Overview


Minagene's proprietary SES utilizes metagenomic sequencing and bioinformatics to establish molecular diagnoses in patients presenting with sepsis, bacteremia or other systemic inflammatory responses of unknown etiology.


Methodology



Blood and other sterile site


Blood and other sterile site specimens are subjected to shotgun sequencing on the Illumina platform post-nucleic acid purification. Metagenomic analysis characterizes the circulating pathogenomic and identifies resistance genes by comparison against curated pathogen databases.


Key Highlights of Minagene’s (SES) of Systemic Infections


Key Highlights of Minagene’s (SES)


-Detects viruses, bacteria, fungi, parasites from whole blood


-Identifies causative organisms in culture-negative cases


-Assesses antibiotic resistance without culture-based assumptions


-Streamlines infection control by specifying pathogenic source


-Returns results within 5 days to guide targeted antimicrobials


By applying an unbiased “whole-microbiome” approach, SES addresses diagnostic challenges in sterile site infections. Simultaneous resistance profiling enables optimized, narrow-spectrum empiric therapy selection.


When to Consider


SES is recommended for evaluation of sepsis, infective endocarditis or other life-threatening systemic infections with negative conventional microbiologic workup requiring fast diagnosis.

Read More
30 Nov
Categories Diseases, Gastroenterology, Infectious Diseases, medical microbiologists, speciality

Gastrointestinal Pathogen Test










Overview


Minagene's proprietary gastrointestinal pathogen panel utilizes multiplex PCR and next-generation sequencing to simultaneously detect over 30 bacterial, viral and parasitic organisms associated with acute and chronic diarrhea.


Methodology



Stool specimens


Stool specimens are treated with a lysis buffer and nucleic acid is extracted. Hypervariable regions are amplified using tiled primers barcoded for each pathogen. Sequencing on the Illumina platform at >10,000x coverage allows for identification of variants associated with antimicrobial resistance.


Key Highlights


Key Highlights


-Identifies causative agents missed by conventional assays


-Screens for emerging enteric pathogens like Cyclospora


-Assesses antibiotic resistance of detected bacteria


-Provides results within 5 days to guide targeted therapy


-Offers cost savings compared to sequential single-target testing



With its unparalleled breadth and speed, Minagene’s stool panel streamlines the diagnostic evaluation of gastroenteritis. Genome-resolved pathogen data assists clinical decision-making and public health monitoring of infectious outbreaks.


When to Consider Minagene’s Gastrointestinal Pathogen Test


This comprehensive test is recommended for patients with severe or prolonged diarrhea, particularly in transplant, oncology or malnourished populations where opportunistic infections necessitate rapid diagnosis and isolation.

Read More
30 Nov
Categories Diseases, Infectious Diseases, medical microbiologists, speciality

Eye Infections Syndrome Evaluation System










Overview


Minagene's proprietary SES protocol concurrently isolates and
identifies causative organisms from bilateral ocular swabs, streamlining diagnosis of bacterial conjunctivitis, blepharitis,
keratitis and endophthalmitis. Deep sequencing with
bioinformatic analyses achieve comprehensive pathogen
detection from a single specimen.


Methodology



The Syndrome Evaluation System


The Syndrome Evaluation System (SES) is a patented technology used for rapid multiplex amplification and accurate identification of virulence-associated genes of causative agents or organisms. This advanced platform surpasses conventional diagnostic tests by providing fast and precise results, especially when organisms are challenging to cultivate or locate. Currently available diagnostic technologies for detecting infections are inadequate, often failing to detect early stages of illness and delaying specific therapy in critical cases, which can lead to functional loss or even loss of life.



The SES amplifies genes


The SES amplifies genes, enhancing the sensitivity of the test. The re-naturation of the amplified signature gene to its chemically identified complementary gene sequence on the SES further improves accuracy.



Key Highlights of Minagene's Eye Infections Test


Higher Accuracy


Detects a greater number of cases compared to conventional methods


Reduction in Testing and Investigations


Avoids the need for multiple testing and unnecessary investigations, leading to cost savings.
Reduces the duration of stay in the intensive care unit (ICU) and associated costs.


Comprehensive Pathogen Detection


– Detects DNA of various pathogens, including fungi, viruses, parasites, and bacteria, in a single test.


-Capable of detecting both unimicrobial and polymicrobial infections.


Efficient Rule-in or Rule-out


Helps in confirming or excluding the presence of infections












Read More
30 Nov
Categories Diseases, Infectious Diseases, Neurology, speciality

CNS Infections Syndrome Evaluation System










Methodology



The Syndrome Evaluation System


The Syndrome Evaluation System (SES) is a patented technology used for rapid multiplex amplification and accurate identification of virulence-associated genes of causative agents or organisms. This advanced platform surpasses conventional diagnostic tests by providing fast and precise results, especially when organisms are challenging to cultivate or locate. Currently, available diagnostic technologies for detecting infections are inadequate, often failing to detect early stages of illness and delaying specific therapy in critical cases, which can lead to functional loss or even loss of life.


The SES amplifies genes, enhancing the sensitivity of the test. The renaturation of the amplified signature gene to its chemically identified complementary gene sequence on the SES further improves accuracy.


Key Highlights of Minagene's CNS Infections Test:


Higher Accuracy


Detects a greater number of cases compared to conventional methods


Reduction in Testing and Investigations


Avoids the need for multiple testing and unnecessary investigations, leading to cost savings


Reduces the duration of stay in the intensive care unit (ICU) and associated costs


Comprehensive Pathogen Detection


Detects DNA of various pathogens, including fungi, viruses, parasites, and bacteria, in a single test.


Capable of detecting both unimicrobial and polymicrobial infections.


Efficient Rule-in or Rule-out


Helps in confirming or excluding the presence of infections


Molecular Basis of Infectious Disease Diagnosis:


Molecular detection


Molecular detection, which involves amplification and hybridization of nucleic acids, has revolutionized the diagnosis of infectious diseases. PCR (Polymerase Chain Reaction) is a commonly used method for nucleic acid detection in clinical laboratories. This approach allows for the direct detection of mutations associated with drug resistance in biological samples without the need for culturing the organism.



molecular basis


The molecular basis of diagnosis offers a new and innovative era in microbial diagnosis, improving the speed and accuracy of identifying infectious diseases. It enables targeted therapy and timely interventions, leading to better patient outcomes.










Read More
1 2 3 4 5

Your compare list

Compare
REMOVE ALL
COMPARE
0