Human Genome Sequencing Test
for Clinical Diagnostics
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 and often inconclusive. Furthermore, the delayed diagnosis can impact the patient’s prognosis.
In such scenarios, the use of human genome sequencing is the recommended first-tier testing strategy. GenomDx is a comprehensive human genome sequencing based diagnostics tests that aids the clinician in identifying the underlying genetic cause with certainty, solving the diagnostic odyssey for the patient.
Comprehensive genetic test analysing human genome at a single base level resolution
Detects single nucleotide variants, insertions/deletions, copy number variations, inversions and translocations
Intelligible clinical reports generated by Human Geneticists and classification of variants as per ACMG-AMP guidelines
Recommended for rapid clinical decisions and for patients who have exhausted genetic testing options