Human Exome Sequencing Test
for Clinical Diagnostics
+ Mitochondrial Genes Included
Human Exome Sequencing
In patients suspected to have a genetic disorder, a combination of symptoms and phenotype, may not allow the clinician to pinpoint the genetic cause with certainty. In such complex cases, a stepwise diagnostic approach makes the testing time-consuming, costly and often inconclusive. Furthermore, the delayed diagnosis can impact the patient’s prognosis.
In such scenarios, the use of human exome sequencing is the recommended first-tier testing strategy. ExomDx is a comprehensive human exome sequencing test that aids the clinician in identifying the underlying genetic cause with certainty, solving the diagnostic odyssey for the patient.
Highly uniform coverage of the human exome. Greater than 20,000 genes covered, including the mitochondrial genes.
Detects single nucleotide variants and small insertions/deletions. Greater than 99% of ClinVar variants covered.
Proprietary analysis algorithms. Bioinformatics results interpretation by Human Geneticists. Classification of variants as per ACMG-AMP guidelines.
Informative reports with actionable results and recommendations for quicker clinical decisions and effective disease management.
Single test for known and potentially disease-causing variants. Minimises step-wise testing and multiple evaluations.