WholeSeq

Whole genome sequencing

Output Report: fastq

TEST CODE: 22101

WholeSeq+

Whole genome sequencing with report

Output Report: fastq, vcf, report

TEST CODE: 22102

descTurnaround time 3 weeks for WholSeq
6 weeks for WholeSeq+
descPreferred specimen type DNA
desc Alternate specimen type Peripheral Blood

TEST INFORMATION

How WholeSeq works?

WholeSeq offers superior coverage of areas that are traditionally difficult to sequence, such as GC-rich regions, promoters, and repetitive content. WholeSeq uses PCR-free approach to reduce library bias and gaps offering high data quality and optimal variant detection across the genome.WholeSeq is performed on illumina NovaSeq 6000 – the most powerful and highest throughput illumina sequencing platform till date.

What information is provided in the Report?

Agiomix provides a comprehensive clinical report reviewed by our Medical Board of Consultants and Genetic Counsellors. Pre and post-test counsellingare also available to insure the complete understanding of the results.

The Test Report is divided into two sections:

Primary Findings where the Pathogenic Variants are reported Secondary Findings according to The American College of Medical Genetics and Genomics (AMCG) guidelines. AMCG recommends all laboratories performing WES to report mutations in 59 specific genes. If any mutation is identified in these genes it is reported in the secondary findings section.