Expand to Exome

Flexibility to expand from panel to exome in 14 medical specialties

If your patient’s previous genetic testing (panel, single gene test) is inconclusive or there is a diagnostic finding that doesn’t explain the whole phenotype, you can provide your patient with the most comprehensive genetic test by expanding to whole exome sequencing.

Expand to Exome is available from any single gene, panel, or customized panel in any of our 14 different medical specialties.

Blueprint Genetics understands that every patient has different genetic testing needs that can evolve over time, and that it may be preferable to begin with a single gene test or panel and later expand testing to include whole exome sequencing. Now, ordering a single gene or panel for your patient allows you the option to Expand to Exome for up to two years after the initial test results were reported*.

Expand to Exome:

  • From your previous Blueprint Genetics’ order (single gene, panel, or customized panel) to whole exome sequencing
  • From any of our single genes or panels in 14 different medical specialties
  • Always expands to Exome Plus or Exome Family Plus, including both sequencing and deletion/duplication analysis
  • Available for up to 2 years after the initial test results have been reported
  • Has a turn-around time of approximately 8-10 weeks


See information about pricing here.

Who can order Expand to Exome?

  • The Expand to Exome service is available for any index patient who previously had a single gene test or panel performed at Blueprint Genetics after April 1st 2018
  • If the order is placed by an organization other than the initial ordering organization, a PHI release form (Authorization Form for Disclosure of Protected Health Information) is required. For this form and further information, please contact support.us@blueprintgenetics.com for further information
  • For orders placed before April 1st, 2018, please go to Whole Exome Sequencing for a normal-priced new order

How to order: 

  1. Log in to Nucleus and choose WES Plus or WES Family Plus
    – If you would rather use a paper requisition form, click here.
  2. Check the Expand to Exome box on the first page (Order info) and provide the Order ID (for example, 12345) of the index patient’s previous test
  3. Provide relevant clinical information about your patient (symptoms, previous tests performed, and family medical history) to help direct the focus of the clinical interpretation and to expedite the results
  4. Provide a signed WES consent form from your patient (and family members, in case of WES Family) by sending us a signed WES consent form
  5. There is no need to send a new sample from the index patient (in the event that we do need an additional sample, we will contact you). If you are ordering WES Family, you will need to send us family members samples
  6. You will receive the results and a new clinical report in approximately 8-10 weeks

 

Test codes:

  • Expand to Exome Plus from single gene (Test code: ETE001)
  • Expand to Exome Family Plus from single gene (Test code: ETE002)
  • Expand to Exome Plus from any panel, including Flex (Test code: ETE003)
  • Expand to Exome Family Plus from any panel, including Flex (Test code: ETE004)

CPT codes:

  • Expand to Exome Plus from single gene (CPT codes: 81415, del/dup: 81229)
  • Expand to Exome Family Plus from single gene (CPT codes: 81415, 81416 (x2), del/dup: 81229 (x3))
  • Expand to Exome Plus from any panel, including Flex (CPT codes: 81415, del/dup: 81229)
  • Expand to Exome Family Plus from any panel, including Flex (CPT codes: 81415, 81416 (x2), del/dup: 81229 (x3))

*All orders subject to availability. Blueprint Genetics may extend or shorten the period from time to time. Orders are valid only after Blueprint Genetics has confirmed the order. Blueprint Genetics reserves the right to refuse any orders submitted. For more information, please see: https://blueprintgenetics.com/general-terms/

Whole Exome Sequencing (WES) as a diagnostic tool

Whole exome sequencing is a diagnostic tool for patients with complex genetic disorders, where the correct diagnosis is difficult to establish due to overlapping symptoms, complicated medical histories or in cases where previous genetic testing has not yielded conclusive results.

Our Whole Exome tests have been developed to maximize the diagnostic yield for patients with rare inherited disorders and include:

  • high-quality sequencing data
  • state-of-the art bioinformatics pipeline
  • high-quality interpretation by rare disease expert team of PhD geneticists
  • improved coverage and clinical sensitivity of challenging genes
  • best in class CNV detection
  • identification of ~1,500 clinically relevant non-coding variants

WES & the importance of detailed clinical information

Providing detailed clinical information about your patient is an underestimated, but extremely important, part of getting results to you, and your patient, in a timely fashion. The more thorough the description of the patient’s phenotype, family history and previous test results (including negative investigations), the faster the focus can be directed to variants in genes relevant to your patient’s symptoms.

 

Last modified: 10.18.2018