We explain genetic test results in clear, easy-to-understand language for patients and families. In addition, we provide independent, high-level scientific review of certain inconclusive genetic findings, including the reanalysis of Variants of Uncertain Significance (VUS).
Genetic testing is often performed to better understand a medical condition. However, genetic concepts and test results can be difficult to understand by patients and their families.
In many cases, results clarify the origin and evolution of a condition and may support therapeutic decisions. However, even when appropriately indicated and technically well performed, reports may identify findings such as a Variant of Uncertain Significance (VUS) that do not clearly explain the clinical situation. Further high-level scientific reassessment can, in selected cases, provide additional clarity.
Our unique service therefore offers two levels of support.
First, we provide patients and families with a clear, easy-to-understand explanation of the genetic test performed, its purpose, and its results.
Second, when the report includes inconclusive findings such as a VUS, we provide a rigorous and independent scientific reanalysis that may contribute to a better clinical interpretation of the reported genetic findings.
Independent, case-by-case explanation and scientific analysis of genetic test results.
We provide a clear, easy-to-understand explanation of the genetic test performed, its purpose, and its results. For reports presenting complex or inconclusive findings, including Variants of Uncertain Significance, we may also recommend a separate, in-depth scientific reanalysis.
In selected cases, complex or inconclusive findings (e.g. Variants of Uncertain Significance, VUS) may undergo a separate scientific reanalysis from multiple perspectives. This additional phase is offered at an additional cost and aims to provide further information that may support interpretation in the clinical context. An optional online session with a specialist is also available to address questions or concerns.
An independent scientific review designed to help you understand your genetic test results and, in some cases, determine whether a more in-depth analysis may provide additional information, particularly when the report includes Variants of Uncertain Significance (VUS) related to a rare disease.
The process unfolds in two clear stages, each with its own fee. In selected cases, an in-depth analysis may be offered after completion of the initial review.
Securely upload your genetic test report and the relevant clinical information.
Our team reviews your report and provides a clear written explanation of the type of genetic test performed, its results, and what the findings can and cannot conclude. In selected cases, we may also provide additional interpretation beyond the information included in the original report. This independent scientific opinion does not replace the interpretation of the treating physician, establish a physician–patient relationship, or recommend any specific clinical or therapeutic action.
We determine whether the findings, VUS associated with rare diseases, may benefit from a separate in-depth analysis. When appropriate, you will be offered the option to continue to Phase 2 through a separate invoice.
Your results can be downloaded securely and confidentially.
Each selected case undergoes detailed scientific reanalysis supported by advanced computational tools. Our approach integrates population and molecular genetics, functional genomics data, evolutionary conservation, probability models, relevant clinical information, and structured literature analysis.
Your results can be downloaded securely and confidentially. An optional 20-minute consultation with a specialist is available for $89 to discuss the findings and address your questions.
Three inputs are enough to begin the review.
Patient identifiers should be removed whenever possible.
Describing onset, evolution, and current status.
If available.
Transparent, flat pricing in U.S. dollars.
Available in specific cases after initial review.
A live conversation with our scientific team.
A written explanation of your genetic test, with further scientific reanalysis available in selected cases, plus an optional consultation.
You first receive a clear written explanation of the genetic test, its purpose, results, and limitations. In selected cases, a separate in-depth scientific reanalysis may subsequently be recommended for complex or inconclusive findings and is offered at an additional cost.
A private online discussion with the Scientific Director to review the findings and address any questions or concerns.
Scientific Director
All reviews are conducted by a molecular geneticist with extensive experience in rare diseases.
Each case is reviewed and validated by Professor Paul Laissue, Scientific Director of PLH Genetics, with over 25 years of experience in molecular genetics, functional genomics, and quantitative genetics research.
Short answers to what families and physicians ask most.
A VUS is a genetic change for which current evidence is insufficient to classify it as benign or disease-causing. A structured scientific reassessment can sometimes resolve that complexity.
Read the full VUS guidePlain-language, evidence-based guides written for patients, families, and the clinicians who support them.
What a genetic test analyzes, the main types of tests, and what the results really mean.
Read the guideWhat conclusive, negative, and inconclusive (VUS) results mean, and which questions to ask.
Read the guideWhy a confusing or inconclusive result is so hard to sit with, and how to regain clarity.
Read the guide
