Baby Shreya (named changed to protect privacy), born to a consanguineous couple was diagnosed with global developmental delay and epilepsy. Her preliminary investigations suggested a possible mitochondrial disorder. Till the advent of Next Generation Sequencing confirming the diagnosis of a mitochondrial disorder was a clinician's nightmare!
With NGS the doctor was able to get a direct genetic diagnosis done. NGS testing revealed that Shreya was suffering from a Rare Disease called Biotin-Thiamine Responsive Basal Ganglia Disease. This is a treatable disorder as compared to other mitochondrial disorders thus saving Baby Shreya and her family years of emotional and financial hardships.
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, Clinical Exome and Whole Genome Sequencing (WGS), has resulted in an ever-increasing number of RD genes being diagnosed at a much earlier stage.
Trio Exome Analysis
Targeted Gene Panel
|A combined analysis of affected and unaffected members (usually parents and patient). Helps to identify variants which have been inherited from parents as well as variants which are de novo.||Whole Exome is a comprehensive test that looks at all the exome sequences that are present in the human genome.||Clinical Exome is a test that screens all genes currently known to cause human disease. About 6000 genes are reported to be clinically relevant.||They contain a select set of genes or gene regions that are known or suspected associations with certain diseases.|
At MedGenome we operate the highest throughput genetic testing lab in India. We have:
Results obtained in 20 to 28 days depending on the testRegister Here