Delivering Unprecedented Coverage

India's first Whole Exome Sequencing (WES) to deliver Maximum Diagnostic Yield

What is ExomeMAX Test?

ExomeMAX (panel ~47Mb) is an inclusive design, augmented by experts, to provide better coverage of disease-associated genes to improve diagnostic outcomes. It provides a comprehensive genetic evaluation of inherited disease genes in this era of constantly evolving genotype-phenotype associations.

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Diagnostic yield can increase by 30% with
improved coverage of exomes

At 20x coverage ExomeMAX has ~4.5% better
cover than off the shelf exomes

Exome Max

When do you need to get tested?

In cases where Clinical findings or family history is suggestive of an underlying genetic etiology
To screen for genetically heterogeneous diseases
To detect an undiagnosed genetic disease (diagnostic odyssey) in a patient
To facilitate medical intervention and/or treatment
To confirm the suspected genetic diagnosis
To guide reproductive planning and assessment of recurrence risk
To determine a prognosis (based on family history)

Clinically relevant for a range of disorders in specialities like

Rare Diseases
Inherited Cancers
Neurology
Cardiology
Endocrinology
Nephrology
ENT
Others

Why MedGenome?

CAP accredited test; performed 100% in biannual proficiency testing conducted by CAP
Well validated as per CAP guideline; >98% sensitivity and specificity with 100% accuracy and precision using orthogonal assays/reference standards
High throughput Illumina’s sophisticated NGS sequencing platforms
Global standards for the best laboratory practices followed
Qualified team of bioinformatics engineers
Stringent quality checks are performed for each reported variant
Adequately validated Bioinformatics data analysis pipeline
Expert genome analysts team for variant prioritization, interpretation and reporting

Validation

Requisite quality controls throughout the workﬂow from the laboratory sample processing till interpretation ensuring consistency, validity, and accuracy

Analytical sensitivity is NIST reference standard NA12878 is 99% SNPs and 96.2% for Indels.
100% disease-causing variants (n= 50)
CNV pipeline evaluated by orthogonally validated Copy number variants
ML-enabled analysis using MedGenome proprietary tool
MedGenome database is backed by one of the largest South Asian Variant
Results reviewed by a certified clinical geneticist

Sample Details

ExomeMAX	Details
Sample requirements	Whole blood or extracted DNA of good quality
TAT	21 working days
Required forms	Test request form along with relevant clinical information including all the clinal presentations and symptoms
Methodology	Next Generation Sequencing (NGS)