Pediatrics

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.

  
  

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.

  
  

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.