Quality and Value at PreventionGenetics

Since the founding of our laboratory in 2004, the leaders of PreventionGenetics have emphasized test quality. “Get the Tests Right” is our mantra. Over the years we have labored to earn a strong reputation throughout our industry for quality.

Proficiency Testing

CAP Proficiency Chart

PreventionGenetics performs Proficiency Testing (PT) continuously throughout the year. We perform PT through exchange of specimens with other labs, repeat testing of internal specimens, utilization of specimens and data from the National Institute of Standards and Technology (NIST) Genome in a Bottle, and participation in PT administered by the College of American Pathologists (CAP).

Our PT record is exceptional as evidenced by our CAP PT results from the last five years. This data is taken directly from the CAP web site. The dark gray bars are PreventionGenetics' results. The purple and teal bars are average results from other labs. PreventionGenetics significantly and consistently outperforms other labs.

Special Features of our Testing

We routinely incorporate many special features into our testing process to ensure quality. A few examples follow. Other labs offer some of these features, but none offers all of them.

  • Our genotyping panel is run on all specimens as a quality control measure to detect specimen mislabeling, specimen contamination, and to confirm family relationships.
  • Our test results and reports are carefully reviewed by four highly trained and experienced individuals, including geneticists.
  • We have carefully and independently evaluated all genes for uniqueness in the genome. Those genes which have high sequence identity to another functioning or non-functioning gene (paralogous genes) and that cannot be accurately sequenced by standard NextGen sequencing methods are treated specially. Examples include PKD1, GBA, PMS2, and NEB. In many cases, we have developed unique assays to enable us to accurately test these genes.
  • Variants that do not meet our stringent quality criteria are confirmed by an orthologous method before reporting.
  • We take exceptional measures to avoid internal specimen mislabeling. Out of ~150,000 test reports, only one needed to be corrected because of a mislabeling error.

Value

  • PreventionGenetics retains complete patient sequence information for reinterpretation and to benefit family members. This data is available for eventual transfer into patient electronic health records.
  • For our PGxome® and PGnome® tests, we offer one free reinterpretation of the data within three years of the test date.
  • Targeted testing of variants in biological parents of probands can benefit families by clarifying interpretation of variants. PreventionGenetics offers no-cost targeted testing in certain situations. Click here to view our policy.

Service & Expertise

  • We provide free interpretation for any sequence variant in any clinically relevant gene through our Variant Interpretation Service.
  • Although we utilize several computer programs and many databases, ultimately, sequence variants are interpreted manually by our expert PhD geneticists. We do not rely solely on automated approaches.
  • We are transparent with test prices. All test prices are listed on our web site.
  • Our staff is available via chat, email, or phone. Contact us here.
  • We have over 350 curated NGS panels on our website. If we don't have what you are looking for you can create your own panel with our custom panel tool.