Clinical Exome Sequencing

What is the Clinical Exome Testing?

Clinical exome sequencing is a comprehensive DNA analysis that aims to identify the genetic cause of various disorders. It focuses on known disease-associated genes, providing critical insights for diagnosing genetically complex or atypical cases. Clinical exome sequencing test covers nuclear genes curated from authoritative databases like OMIM, HGMD, and ClinVar.

Comprehensive Validation and Coverage for Precise Clinical Insights

ParameterClinical ExomeWhole Exome
Genes7,000+20,000+
Design29.2 Mb43.2 Mb
Mitochondrial GenesOptionalOptional
CoverageCoding and selective noncoding regionsCoding regions
ApplicationHeterogeneous diseaseNovel and known disease
CAP AccreditationYesYes

Clinical Applications of Clinical Exome Sequencing

  • When clinical symptoms or family history point to a potential genetic cause.
  • For screening genetically complex or heterogeneous diseases.
  • To identify a previously undiagnosed genetic disorder in patients with complex symptoms (diagnostic odyssey).
  • To enable targeted medical intervention or treatment options.
  • For confirmation of a suspected genetic diagnosis.
  • To support reproductive planning and evaluate recurrence risks.
  • To assess prognosis based on family medical history.

Specifications

  • Sequencing Method:: NGS (Next Generation Sequencing).
  • Coverage Depth: Mean depth of >80-100X across the exome.
  • Features: Deep-Targeted Coverage of Disease Associated Genes, Probes designed based on multiple gene models, Improved CNV detection, Coverage of significant pathogenic mutations based on diseases database and Coverage of deep intronic and promoter pathogenic mutations.
  • Analysis: Backed by largest Indian database of over 3 million variants.
  • Sample Type: Blood - 3-5ml in EDTA tubes or extracted DNA sample.
Human DNA structure highlighting MedGenome genetic testing and DNA test in India

Exome Tests Offered by MedGenome

Key Highlights of MedGenome's Clinical Exome Testing

Comprehensive Gene Coverage

MedGenome's Clinical Exome Sequencing test covers disease-associated nuclear genes.

Cost-Effective Disease Association

Clinical Exome panel (Ver. 6) offers high diagnostic utility at a significantly lower cost than whole-exome sequencing.

Analytical Sensitivity

Over 99% sensitivity for SNPs and 93% for InDels, with high-precision variant calling validated using reference sample NA12878.

What is Clinical Exome Testing?

Clinical exome sequencing is an advanced DNA test designed to identify the genetic causes of various medical conditions, especially those that are genetically complex or have atypical presentations. It focuses on genes known to be linked with diseases and is particularly useful for diagnosing rare or undiagnosed disorders. This test covers genes curated from well-known genetic databases, including OMIM, HGMD, and ClinVar. The clinical exome test is an in-depth test that helps identify pathogenic changes (gene variations) that may be linked to a person’s health condition.

Which Genetic Disorders Can Be Detected with Clinical Exome Testing?

CategoryDescription
Neurological DisordersGenetic conditions affecting the brain, spinal cord, and nervous system, such as epilepsy and neurodevelopmental disorders.
Hereditary CancersIdentifies genetic mutations linked to inherited cancer risk, aiding in early detection and preventive care.
Cardiac DisordersDetects genetic factors contributing to heart conditions, including cardiomyopathies and arrhythmias.
Endocrine ConditionsIncludes genetic causes of diabetes, thyroid disorders, and other hormone-related conditions.
Metabolic DisordersIdentifies inherited enzyme deficiencies that affect metabolism, such as amino acid and lipid metabolism disorders.
NephrologyHelps diagnose genetic kidney diseases, including polycystic kidney disorders and other hereditary nephropathies.
ENT DisordersCovers genetic causes of hearing loss, balance disorders, and other hereditary ear, nose, and throat conditions.
MedGenome scientist conducting genetic testing and DNA test services in India

When Should You Consider Clinical Exome Testing?

A clinical exome sequencing test may be considered in the following situations:

  • Family History: If there is a strong family history of a particular health condition, clinical exome sequencing may help identify specific genes that could be inherited.
  • Undiagnosed Genetic disorders: When a patient has symptoms of a genetic disorder but a diagnosis is not confirmed, a clinical exome sequencing test can offer insights.
  • Recurrent pregnancy loss: If you have experienced multiple miscarriages, CES can help identify genetic factors behind it and guide reproductive planning.
  • Developmental delay or intellectual disability: If a child is experiencing developmental delays or intellectual disability, CES can help identify the genetic cause.
  • Medical Intervention: For certain genetic conditions, early intervention can make a difference, and clinical exome sequencing may help guide treatment plans.

What are the Key Features of MedGenome’s Clinical Exome Version 6?

How Does MedGenome’s Clinical Exome (Ver. 6) Compare to Other Exome Tests?

Frequently Asked Questions (FAQs)

  • What are the sample requirements for clinical exome sequencing?

    For clinical exome sequencing, a good-quality blood sample or extracted DNA is required. Whole blood is often preferred to ensure the best quality sample for analysis.

  • How long does it take to receive clinical exome test results?

    Typically, the results for clinical exome sequencing take about 19 working days. In some cases, additional time may be required if further analysis is needed.

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