GeneCORE Deep Gene Sequencing Test Cost & Procedure

The test reads the coding regions of 315 genes linked to cancer, along with the introns of 28 genes that are frequently rearranged or changed in cancer, to a median depth of coverage that is typically larger than 500X. Base substitutions, insertions and deletions (indels), copy number modification (CNAs), and rearrangements are just a few of the genomic alteration that it can determine.

Deep Sequencing: An Introduction

Deep sequencing is the practise of repeatedly, up to thousands of times, sequencing a single genetic area. By utilising next-generation sequencing (NGS), researchers can determine uncommon clonal kind, cells, or microorganisms that create up as little as 1% of the original specimen.

Deep sequencing applications

For study on rare cell populations, including that in microbiology, cancer, and other fields, deep sequencing is helpful. For instance, because cancer samples frequently contain normal cell contamination and because tumours themselves almost certainly contain several subclones of cancer cells, deep sequencing is necessary to detect mutations within tumours.

Sequencing Depth Determinants

Several variables affect whether deep sequencing is necessary. For low purity tumours, highly polyclonal tumours, and applications requiring high sensitivity, for instance, the needed sequencing depth rises in the field of cancer research (identifying low frequency clones). The depth of cancer sequencing often varies from 80 to thousands of times.

Cancer Sequencing Depth Determinants

Cancer's pristine state

Normal tissue and malignant tissue coexist in most tumours. To discover tumour mutations with the same confidence as a 100% pure tumour sample, a tumour that contains 50% normal tissue would require twice as much sequencing depth.

Differentiation of the tumour

Polyclonal cancers usually have advanced stages. The sequencing depth required to accurately capture each clonal type increases with the number of clonal types present.

Sensitivity required*

After a drug-resistant recurrence, clones that made up 1% of the initial tumour may end up predominating. If the tumour doesn't include any normal tissue, a 1% clone will only appear once in 100 coverage.

Further Details

Read more about the applications of deep sequencing.

• genomics of cancer
• Microbiology
• Neurogenomics
• Immunogenomics
• heart and blood vessel genomics
• RNA sequencing in a single cell