Exome Sequencing
Exome Sequencing Overview
Changes in genes which are responsible for the expression of these proteins can often lead to a diseased state. Exome Sequencing is a methodology to uncover these complex changes. Lifecell Diagnostics’ Whole exome sequencing is one of the most comprehensive whole-exome sequencing tests, capable of detecting deep-intronic and promoter region pathogenic variants. This test is useful in the detection of CNVs (copy number variations), a crucial component of high-quality exome analysis. CNVs are an important disease mechanism that should be evaluated in cases with a suspected inherited disorder.
When should Whole Exome Sequencing be considered?
Whole Exome Sequencing could be used in a variety of situations, including:
- The patient had a condition suggestive of a genetic disorder, but there is a long differential diagnosis list.
- The patient had an unclear or atypical presentation of a genetic disorder.
- The patient had a condition suggestive of a genetic disorder, but there is a long differential diagnosis list.
- The patient had an unclear or atypical presentation of a genetic disorder.
Exome Sequencing helps prospective parents in more ways than one
Enhanced coverage of known disease-related genes
Average TAT of 10 business days
Report results in a comprehensive and easy-to-read way
Interpretation of results with clinical geneticists
How Does Exome Sequencing Work?
Booking The Test
Doctor places an order for the test
Collection
The sample is collected and shipped to the lab
Laboratory Analysis
Testing and analysis are carried out
Reports
Reports are shared within 10 working days
Make an intelligent life decision for your child with
Exome Sequencing
SIGN UP TODAYPlease note that Exome Sequencing can only be ordered by a physician. They would also be the only person to receive your results and will pass them along to you. If you are unable to find a physician, contact us on 1800-266-5533 & we will organise one for you at no additional cost.
Frequently Asked Questions
A DNA sample is collected from POC blood
- Greater than 97% of the exome covered at >20x coverage
- Average read depth of 100x
- Enhanced coverage of known disease genes and regions to enable identification of rare and common single-nucleotide variants (SNV's), small insertion/deletion variants & de novo mutations.
- Reliable detection of CNVs
- Average TAT of 10 business days
- Report results in a comprehensive and easy-to-read way
- Interpretation of results with clinical geneticists
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