List of NGS Exome Tests


Exomes are regions of the genome that are known to encode proteins and include approximately 1%–2% of the genome but are thought to contain approximately 85% of disease-causing variants.

Determining the underlying genetic aetiology for structural abnormalities, if one exists, can give patients and providers valuable information about prognosis, care planning, and recurrence risk.

Exome Sequencing:

Exome sequencing is a specific variant of the targeted approach discussed above that has also been rapidly incorporated into the clinical genetic screening. Instead of focusing on candidate genes, all coding regions across the genome are targeted for the unbiased screening of coding variants.

Exome sequencing focuses on targeted sequencing of the protein-coding regions of the genomic DNA and shows promise as a new tool in gene discovery for complex diseases and for facilitating the accurate diagnosis of individuals with unsolved Mendelian conditions.

Difference between Exome Sequencing and Genome Sequencing:

Whole Genome Sequencing sequences the complete DNA of an organism. In the case of a human, this corresponds to about three billion base pairs of DNA. Whole-genome sequencing entails sequencing all coding (exons) and non-coding (intron) nuclear DNA as well as mitochondrial DNA. This allows researchers to generate large quantities of data, which can then be analyzed.

The exome makes up only 1.5% of the whole human genome, however, ALL protein-coding genes are found in the exome. Since most genetic disorders are correlated with mutations in protein-coding genes, most physicians and scientists who use sequencing technologies for diagnostic purposes start with an analysis of the exome. Exome sequencing and analysis typically take less time than whole-genome sequencing at less than half the cost.

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List of NGS Exome Test collection centres in India is Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Surat, Pune, Jaipur, Visakhapatnam, Kanpur, Nagpur, Lucknow, Thane, Bhopal, Indore, Pimpri-Chinchwad, Patna, Vadodara, Ghaziabad, Ludhiana, Agra, Nashik, Faridabad, Meerut, Rajkot, Kalyan-Dombivli, Vasai-Virar, Varanasi, Srinagar, Aurangabad, Dhanbad, Amritsar, Navi, Mumbai, Allahabad, Howrah, Ranchi, Gwalior, Jabalpur, Coimbatore, Vijayawada, Jodhpur, Madurai, Raipur, Chandigarh, Guntur, Guwahati, Solapur, Hubli–Dharwad, Mysore, Tiruchirappalli, Bareilly, Moradabad, Tiruppur, Gurgaon, Aligarh, Jalandhar, Bhubaneswar, Salem, Mira-Bhayandar, Warangal, Jalgaon, Kota, Bhiwandi, Saharanpur, Gorakhpur, Bikaner, Amravati, Noida, Jamshedpur, Bhilai, Cuttack, Firozabad, Kochi, Nellore, Bhavnagar, Dehradun, Durgapur, Asansol, Rourkela, Nanded, Kolhapur, Ajmer, Akola.