ExoSeq

Whole exome sequencing

Output Report: fastq

TEST CODE: 21101

ExoSeq+

Whole exome sequencing with clinical report

Output Report: Clinical report (fastq, vcf available on request)

TEST CODE: 21102

ExoSeq+ Duo

Whole exome sequencing for patient and one parent with clinical report

Output Report: Clinical report (fastq, vcf available on request)

TEST CODE: 21103

ExoSeq+ Trio

Whole exome sequencing for patient and both parents with clinical report

Output Report: Clinical report (fastq, vcf available on request)

TEST CODE: 21104

descTurnaround time 3 weeks for ExoSeq
6 weeks for ExoSeq+, ExoSeq+ Duo, ExoSeq+ Trio
descPreferred specimen type DNA
desc Alternate specimen type Peripheral Blood

TEST INFORMATION

How ExoSeq works?

ExoSeq achieves uniform coverage and high on-target sequencing reads:

  • 45 MB target region
  • ≥98% of RefSeq, CCDS, and Ensembl coding content
  • >80% on target reads
  • >85% uniform coverage (% coverage at 20x for 4 Gb data)

ExoSeq 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 counselling are 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