Genetic disorders can present at birth or at a later life. They can affect a single organ or multiple organ systems. Usually, your referring clinician considers genetic testing based on the following:
A definite diagnosis provides answers to What is it? How did this happen? What next?
Lack of a diagnosis marks the beginning of a pillar to post journey for a family.
The advent of ‘Next Generation Sequencing’ technology has made the detection of these diseases possible at a much quicker rate. An accurate diagnosis which earlier took years is now possible in 4-8 weeks via Next Generation Sequencing. Specific NGS techniques such as Whole Exome Sequencing, Trio Exome, Clinical Exome and Whole Genome Sequencing (WGS), and tests like ExomeMax, RapidExome, Targeted Gene Panels have benefited in empowering the clinicians for better diagnosis and better patient management at an early stage.
|Trio Exome Analysis
|Targeted Gene Panels
|Maximum Diagnostic Yield. It covers ~99% of gene including alternate gene transcript, non coding pathogenic variants, 100% mitochondrial genome. It also has specialized probes for superior detection Of SNVs and CNVs.
|Offers detailed report in 10 days for comprehensive genetic analysis for genetically heterogeneous Rare Diseases.
|Helps to identify variants which have been inherited from parents as well as variants which are de novo.
|A comprehensive test that looks at all the exome sequences that are present in the human genome.
|Screens all genes currently known to cause human disease.
|Tests a select set of genes or gene regions that are known or suspected associations with certain diseases.
At MedGenome we operate the highest throughout genetic testing lab in India. We have: