ExomeMAX - Enhanced Whole Exome Sequencing

Advanced exome sequencing for better genetic clarity

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What is the ExomeMAX Test?

ExomeMAX panel, which targets ~47Mb of the human genome, is an innovative molecular testing solution that provides an in-depth genetic evaluation of inherited disorders. With an industry-leading 99% average gene coverage, it analyses both coding and non-coding pathogenic variants and provides 100% mitochondrial genome coverage. This test is invaluable for identifying genetically heterogeneous conditions and undiagnosed genetic disorders amidst evolving genotype-phenotype associations. Supported by MedGenome’s proprietary algorithms and expert analysis, ExomeMAX molecular testing enables personalised treatment plans and improves diagnostic outcomes.

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Comprehensive Validation and Coverage for Precise Clinical Insights

Parameter	ExomeMAX	Whole Exome
Genes	20,000+	20,000+
Design	62.4 MB	43.2MB
Mitochondrial Genes	Yes	Optional
Coverage	Coding and selective noncoding regions	Coding Region
Application	Novel and known diseases	Novel and known diseases
CAP / NABL Accreditation	Yes	Yes

Clinical Applications of ExomeMax

Clinical Findings or Family History: When clinical observations or a patient’s family history suggest a potential genetic cause for their condition.
Screening for Genetically Heterogeneous Diseases: To identify complex diseases that may have multiple genetic factors.
Confirming Genetic Diagnoses: To verify suspected genetic conditions.
Reproductive Planning: To obtain insights that support family planning and to assess recurrence risks for inherited conditions.
Prognosis Determination: To inform potential health outcomes and management strategies utilising family history.

Specifications

Sequencing Method: Next Generation Sequencing (NGS).
Coverage Depth: Mean depth of >80-100X across the exome.
Validation: End to end validation based on control samples and 100% concordance based on reported variants for SNPs/InDels and CNVs. CNVs pipeline evaluated by orthogonally validated sample with known copy number variants.
Analysis: Analysis of SNVs/ InDels and CNVs by proprietary interpretation software and backed by largest Indian database of over 3 million variants.
Sample Type: Blood - 3-5ml in EDTA tubes or extracted DNA sample, amniotic fluid and chorionic villus(CVS) sample.

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Exome Tests Offered by MedGenome

ExomeMAX

Detects: SNVs, InDels & CNVs with high precision (Mitochondrial Genes - Included)
TAT: 19 working days
Test Code: MGM2572

TRIO ExomeMAX

Detects: SNVs, InDels & CNVs with high precision (Mitochondrial Genes - Included)
TAT: 19 working days
Test Code: MGM2731

Whole Exome Sequencing

Detects: SNVs, InDels & CNVs with high precision (Mitochondrial Genes - Optional)
TAT: 19 working days
Test Code: MGM274

Clinical Exome (80-100x)

Detects: SNVs, InDels & CNVs with high precision (Mitochondrial Genes - Optional)
TAT: 19 working days
Test Code: MGM272

Key Highlights of MedGenome’s ExomeMAX

Comprehensive Variant Coverage

Ensures extensive coverage of non-coding pathogenic variants (HGMD/ClinVar) and alternate gene transcripts (MANE, GENCODE, RefSeq), enhancing diagnostic accuracy.

Advanced Sequencing Technology

100% coverage of mitochondrial genome. Utilises high-throughput Illumina sequencing platforms to ensure precise analysis of genetic variants.

Efficient Bioinformatics Support

Specialised probes enable high-resolution detection of SNVs and CNVs, supported by a well-validated bioinformatics pipeline and machine learning–based variant interpretation.

Reliable Results

With an analytical sensitivity of 99% for SNPs and 96.2% for InDels, this test guarantees high reliability in identifying genetic disorders and improves diagnostic yield by 30%.

Report Interpretation and Genetic Counselling

Reports are approved by an expert panel of clinical geneticists based on the medical and family history. Pre-test and post-test genetic counselling is also provided.
MedGenome Lab offers 1300+ genetic tests across various disease categories and takes pride in an impressive annual sequencing capacity of ~7PB data.

Unmatched Variant Discovery

We have discovered over 27 million unique variants to enhance the understanding of genetic conditions.

What is the ExomeMAX Test?

ExomeMAX molecular testing is an advanced genetic test that assesses your DNA to provide valuable information about inherited disorders. It covers about 99% of the important genes and includes the entire mitochondrial DNA to identify changes in your genes that may cause genetic disorders. This test is especially useful when there’s a family history of genetic issues or if doctors can’t determine the cause of a health problem.

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How Does ExomeMAX Compare to Other Exome Sequencing Tests?


Excellent Coverage	ExomeMAX covers about 99% of the genes, helping detect disease-causing gene changes and improving diagnosis by 30%.
Diverse Applications	It can be used to diagnose rare genetic conditions, including inborn errors of metabolism, immune deficiencies, central nervous system disorders, congenital heart defects, as well as nephrological, endocrinological, and ophthalmic syndromic conditions.
Advanced Technology	Special probes allow ExomeMAX to accurately detect both small changes (SNVs) and larger changes in the genes (CNVs).
Comprehensive Transcript Coverage	To enhance detection accuracy, it includes alternate gene transcripts from MANE, GENCODE, and RefSeq.
Non-Coding Variant Detection	The test covers non-coding pathogenic variants from databases like HGMD and ClinVar, ensuring thorough analysis.
Rigorous Validation and Testing	Extensive validation, CAP (College of American Pathologists) and NABL proficiency testing ensures reliability and accuracy in results.

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What Conditions Can the ExomeMax test Detect?

The ExomeMAX Test is designed to diagnose a wide range of genetic conditions across multiple medical specialities. This advanced molecular testing can identify genetic disorders associated with cardiology, neurology, metabolic disorders, endocrinology, and ophthalmology, among others.

By focusing on over 20,000 genes and 2,10,000 exons, ExomeMAX can effectively detect conditions related to inherited disorders, including cystic fibrosis, muscular dystrophy, and certain hereditary cancers. It is particularly useful for patients suspecting undiagnosed genetic disorders or those with a family history suggestive of genetic conditions.

ExomeMAX can also assist in diagnosing genetically heterogeneous diseases, providing critical insights that guide personalised treatment options. Its ability to cover mitochondrial genomes and analyse non-coding variants offers a comprehensive view of inherited disorders.

How Does ExomeMAX Work?

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How is the ExomeMAX test Done?

Sample Collection: A blood or saliva sample is collected from the patient to extract DNA for testing.
DNA Extraction: Advanced techniques help extract high-quality DNA from the collected sample and break the DNA into smaller fragments.
Hybridisation: Biotinylated probes attach to specific parts of genes to make sure only the important areas are sequenced.
Whole Exome Sequencing: The extracted DNA undergoes ExomeMAX molecular testing, which sequences the exome, capturing data from over 20,000 genes.
Coverage of Gene Variants: Both main gene areas and other important parts, including mitochondrial DNA, are studied.
Bioinformatics Analysis: The raw sequencing data is processed using advanced bioinformatics algorithms to identify gene changes.
Expert Review: Clinical geneticists review the results to ensure accuracy.
Reporting: A comprehensive report is generated with the findings and what they mean for the patient’s health.
Follow-Up: Genetic counselling is offered to help understand the results and guide the next steps.

Who Should Consider Taking the ExomeMAX Test?

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What Do ExomeMAX test Results Mean?

Pathogenic Variants: Harmful mutations that are partially or completely responsible for the suspected genetic disorders.
Variants of Uncertain Significance: Mutations that may need further study to determine their possible effects on health.
Carrier Status: The test may show if you carry a gene mutation for a condition that could affect your children.
Disease Risk Assessment: The test assesses predisposition to certain conditions, such as cardiovascular diseases, neurological conditions, metabolic disorders, cancers, etc.
Mitochondrial Genome Insights: The test also checks mitochondrial DNA for related conditions.
Counselling Recommendations: Genetic counselling helps understand the results and guide health decisions.

Why Choose MedGenome for Genetic Testing?

FAQs

How accurate is the ExomeMAX test in detecting genetic variants?
The ExomeMAX molecular test offers exceptional accuracy with ~99% average gene coverage. Its advanced analysis accurately detects single-nucleotide variants (SNVs), copy number variants (CNVs), and pathogenic variants using advanced machine learning algorithms. This precision is validated through extensive proficiency testing.
How does ExomeMAX handle complex genetic conditions with heterogeneous phenotypes?
ExomeMAX excels in analysing complex genetic conditions. It covers over 20,000 genes and detects both coding and non-coding pathogenic variants. Its comprehensive analysis and expert review by certified clinical geneticists make it an efficient screening method for diagnosing conditions with heterogeneous phenotypes.
Can the ExomeMAX test provide insights for reproductive planning?
ExomeMAX is not just a diagnostic method; it's a valuable resource for reproductive planning. By identifying genetic variants and potential risks, it guides family planning decisions, offering insights into inherited conditions, recurrence risks, and potential interventions. This makes it an indispensable screening method for genetic counselling and future health management.

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