Whole Exomes Sequencing (Thermo-Fisher)

Sample type:

Blood, PBMCs


5 working days

Service details

Exome sequencing is a targeted sequencing approach that is restricted to the protein-coding regions of genomes. The exome is estimated to encompass approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations. It identifies the genes implicated in over 6,800 rare diseases, exome sequencing enables rapid, cost-effective identification of common single nucleotide variants (SNVs), copy number variations (CNVs), and small insertions or deletions (indels), as well as rare de novo mutations that may explain the heritability of Mendelian and complex disorders. KRISP leverages the ultrahigh-multiplex PCR approach of Ion AmpliSeq technology and the superior accuracy of the new Ion S5 Sequencing Solution allows for rapid, accurate sequencing of key exonic regions of the genome, going from DNA to variants in just a few days.


Diagnostics and Precision Medicine


Precision Medicine - Whole Exomes Sequencing (WES)

* Contact us for quote

Please note that academic price involves subsidizing the production of data and KRISP members producing (max. two individuals) and/or analyzing data are normally co-authors to manuscripts. The commercial price include all costs and no-authorship or collaborationn is needed. Price can vary due to exchange rates, price last estimated at - 2018-05-21

- Avaliable Equipment

NGS library preparation, microbial genomes, exomes, transcriptomics

NGS of Amplicons, Microbial Whole Genomes, Exomes, Transcriptomics, 16S RNA, Microbiome

KRISP has been created by the coordinated effort of the University of KwaZulu-Natal (UKZN), the Technology Innovation Agency (TIA) and the South African Medical Research Countil (SAMRC).

Location: K-RITH Tower Building
Nelson R Mandela School of Medicine, UKZN
719 Umbilo Road, Durban, South Africa.
Director: Prof. Tulio de Oliveira