Focused Exome Sequencing

Focused exome sequencing is a targeted technology which allows the analysis of all the genes that have disease association. The Focused exome also has a baited backbone to detect genomic deletions and duplications. Exon-level copy number variant (CNV) calling with reliable detection of CNVs >3 exons as well as the use of custom breakpoint capture baits to ensure inclusion of additional common deletion events is also available. It also includes coverage of curated deep intronic and promoter pathogenic variants, and breakpoint baits spanning common deletion events (eg Krabbe disease 30kb deletion).

Testing Options

Standard Focused Exome Sequencing Testing Options

Choose from standard Proband Only and Trio testing options. Parents also have the option of receiving full result reports, if desired.

TEST NAME NUMBER OF GENES
Focused Exome, Proband Only ~ 5,300
Focused Exome, Trio ~ 5,300
Focused Exome, Trios with parental reports ~ 5,300
STAT Focused Exome Sequencing Testing Options

All our Focused Exome tests have a STAT option. Additional costs may apply.

TEST NAME NUMBER OF GENES
STAT Focused Exome, Proband Only ~ 5,300
STAT Focused Exome, Trio ~ 5,300
STAT Focused Exome, Trios with parental reports ~ 5,300
Data ONLY Focused Exome Sequencing Testing Options

Data generation (only) is also available for those physicians and institutions that prefer to do their own exome analysis and report writing.

TEST NAME NUMBER OF GENES
Focused Exome, Proband – Data Only ~ 5,300
Focused Exome, Trio – Data Only ~ 5,300
STAT Focused Exome, Proband – Data Only ~ 5,300
STAT Focused Exome, Trio – Data Only ~ 5,300
Other Testing Options

Supplemental testing options available to complement all our Sequencing test offering.

TEST NAME NUMBER OF GENES
Single-site, known familial variant testing ~ 5,300
Single-site, known familial variant testing – Data ONLY ~ 5,300
Reanalysis and Interpretation for Internal Data ~ 5,300
Reanalysis and Interpretation for External Data ~ 5,300

Why PerkinElmer Genomics

PerkinElmer Genomics’ Focused Exome Sequencing comes with the following features:

  • 98% of the Exome covered at > 20x coverage
  • Average read depth of 100X
  • Enhanced coverage of known disease associated genes and regions (covers ~5300 genes)
    • Exon-level deletion duplication coverage included on all tests Reliable detection of CNVs >3 exons in size. Single exon CNVs can also be predicted, but follow-up confirmation is strongly recommended for any events reported less than 3 exons.

Benefits:

  • Unique and Flexible Test Menu: Choose the options that make sense for your patients
  • Multiple Sample Types: Acceptance of multiple sample types including Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA.
  • Increased Accessibility to Testing: PerkinElmer’s position as an industry leader in Next-Generation Sequencing (NGS) testing solutions allow us to introduce unmatched automation and efficiencies in our clinical laboratory, and we are happy to pass on those cost savings to our patients in the form of industry-leading pricing for Focused Exome Sequencing.

FAQs

What is Focused exome sequencing?

Focused exome sequencing is a genetic test that analyzes all of the genes (~5,300) that are known to have disease association.

When should Focused exome sequencing be considered?

Focused exome sequencing is helpful in the diagnosis of an affected individual when:

  • The patient’s family history is suggestive of a genetic etiology corresponding with a genetic disorder.
  • The patient has symptoms of a well-defined genetic disorder that is caused by multiple genes (genetic heterogeneity).
  • The patient likely has a genetic disorder but previous clinical genetic testing did not yield a genetic diagnosis.
  • The patient’s clinical presentation is unclear/atypical and there are multiple genetic conditions in the differential diagnosis.
Who can order Focused exome sequencing?

Focused exome sequencing must be ordered by a qualified healthcare provider.

What sample types do you accept?

PerkinElmer Genomics accepts multiple sample types including Dried Blood Spots, Whole Blood, Saliva Swabs and Genomic DNA.

Do you confirm all of your findings?

All reported variants are confirmed using an orthogonal method.

What is your variant classification process?

PerkinElmer Genomics follows the published ACMG guidelines when classifying identified variants.

Where are you located?