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 or Exome Family, including both sequencing and deletion/duplication analysis, mitochondrial genome sequencing (mtDNA) and almost 2000 selected non-coding, deep intronic disease causing variants
• Available for up to 2 years after the initial test results have been reported
• Has a turnaround time of approximately 6 weeks
• An existing sample from your previous test can be utilized. Please note that we will need written consent from the ordering clinician to be able to perform analysis on an earlier sample – this can be provided in the test requisition form or via email to our Support team.

See information about pricing here.

Who can order Expand to Exome?

• The Expand to Exome service is available for the same patient as the previous test, placed by the same organization and physician(s) who received the original test results
• We can utilize the existing sample from your previous test. Please note that we will need written consent from the ordering clinician to be able to perform analysis on an earlier sample – this can be provided in the test requisition form or via email to our Support team.

*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
• high-quality CNV detection
• mitochondrial genome sequencing (mtDNA)
• identification of almost 2000 clinically relevant noncoding 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.