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Clinical Exome Precision Targeted Sequencing

Next Generation Sequencing based test to identify and resolve complex disorders

Overview

The Exocliffe Clinical Exome test is a Next Generation Sequencing based test to identify and resolve complex disorders in patients where clinical assessment indicates a genetic link to disease but correct identification is unkown. The ExocliffeClinical Exome test provide Clinical Exome Sequencing of more than 6,000 genes.

Key Features

  • Highly optimized panel design
  • Proven hybridization technology
  • Interrogation of more disease-associated regions – such as those annotated in HGMD, OMIM, and Clinvar.
  • High Quality Phenotype correlated analysis and reporting
  • Actionable reports giving full confidence to the clinicians
  • Accurate and timely reports

Who Can Benefit ?

  • A clinician looking to identify a disorder from similar overlapping clinical symptoms of various disorders.
  • A patient whose diagnosis has not been clear by conventional diagnostics procedures.
  • A patient who has a history of known complex genetic disorder.
  • A patient is suspected of multi gene disorder not beneficial by lesser sequencing technologies.

Common functional areas:

ExoCliffe Clinical Exome Test can be used under following functional areas:
  • Neurology
  • Pediatrics
  • Gastroentrology
  • Cardiology
  • Opthalmology
  • Endocrinology
  • Metabolic disorders

ExoCliffe test can be prescribed to Proband (the affected patient) or Trios (patient along with parents) or additional family member to enable clinicians in better management of the patient. Trios is recommended to have a better insight to understand disease progression in family and identifying best treatment to the patient.

Why use the ExoCliffe Clinical Exome Test ?

  • Exceptional coverage and Uniformity

    ExoCliffe Clinical Exome Test offers coverage of more than 6000 clinically relevant genes as per ACMG guidelines of 80-100X (>99% of coding bases at ≥20X). Highly optimized design for deep coverage of targets in HGMD, OMIM, and ClinVar, 98% at 20x, for highly sensitive variant detection.
  • Streamlined work flow

    Our streamlined workflow allows generation of data with high sensitivity and accuracy for confident variant calling of every sample, every single time which greatly accelerates turn-around time from sample to data while providing deep coverage of genomic regions of interest.
  • Uncompromised performance

    superior performance in variant detection is enabled by proven hybridization technology and the comprehensive exome design. Together, these ensure complete and accurate profiling of genomic regions of interest with the least amount of sequencing
  • Accurate and Reliable Analysis

    ExoCliffe Clinical Exome Test offers advanced Next Generation Sequencing technology and comprehensive automated bioinformatics pipeline to analyze and reporting of reliable, authentic and actionable results.
  • Competitive pricing

    ExoCliffe Clinical Exome Test offers high affordability with uncompromising accuracy and reliability