exomemax

Delivering Unprecedented Coverage

India's first Whole Genome Sequencing 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.

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

ExomeMAXDetails
Sample requirements Whole blood or extracted DNA of good quality
TAT21 working days
Required formsTest request form along with relevant clinical information including all the clinal presentations and symptoms
MethodologyNext Generation Sequencing (NGS)

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