Clinical Exome Sequencing

Test Code
SLS166000
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What is Clinical Exome Sequencing (CES)?

Clinical Exome Sequencing (CES) is a targeted genetic analysis technique that can analyze ~ 6,500 genes associated with a wide range of well defined genetic disorders, including those caused by mutations in either a single gene or multiple genes. It is a cost-effective method for identifying genetic variations that affect protein structure and function.It is a valuable diagnostic tool for precisely identifying genetic variants and is useful for diagnosing all kinds of genetic disorders.
Genes Covered/No of Genes: 6500 Genes; 100-150x coverage

Why choose CES at a prenatal stage?

  • Diagnosis of fetal anomalies: CES can help diagnose fetal anomalies when ultrasound findings are inconclusive or when there is a suspicion of a genetic disorder; it can also identify genetic causes of structural abnormalities or developmental delays
  • Detection of monogenic disorders: It can detect monogenic disorders (caused by mutations in a single gene) that may not be detectable by other prenatal screening methods
  • Informed decision-making: It provides valuable information to couples for informed decision-making regarding pregnancy management and reduces the time it takes to get answers in comparison to other tests

Who is CES for?

  • Prenatal diagnosis of suspected genetic disorders when other tests are inconclusive
  • Identification of fetal anomalies detected by ultrasound that suggest a genetic cause
  • Prenatal diagnosis in families with a history of genetic disorders
  • Individuals with undiagnosed conditions suspected to have a genetic basis
  • Individuals with neurological or psychiatric disorders suspected to have a genetic basis
Methodology: NGS

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