Case-by-case analysis
We offer a case-by-case, in-depth scientific analysis of genetic test results presenting complex and inconclusive findings (e.g., Variants of Uncertain Significance).
Scientific Review · Rare Diseases
Clarity where genetic uncertainty persists
We provide independent, high-level scientific review of genetic test results in rare diseases, including Variants of Uncertain Significance (VUS)
Secure & Confidential25+ years experience
Understanding Genetic Test Result Uncertainty
Genetic testing is often performed to better understand a medical condition, particularly in rare diseases. 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.
This is the purpose of our service: to provide a rigorous and independent scientific review that may contribute to the clinical interpretation of the reported genetic findings.
Services
What We Do
An independent, case-by-case scientific analysis of complex genetic findings.
Multiple scientific perspectives
Each case is analyzed independently from multiple perspectives to establish a rigorous technical and scientific opinion. An online live session with a specialist to address questions or concerns is also available.
Cancer-related tests are not analyzed at this time.
Process
How the Review Is Conducted
A deliberate scientific sequence. Not an algorithmic black box.
The process unfolds in two clear stages, each with its own fee — so you only commit to the full review after the first screening confirms it is worthwhile.
Phase 1 · Initial Screening$55· Decide if a full review is warranted
- 01
Secure and simple upload
You securely upload the relevant clinical information and genetic test report.
- 02
First evaluation round
Our team will conduct an initial assessment to determine whether a comprehensive scientific evaluation can be performed.
Phase 2 · Full In-depth Review$359· Only if you choose to continue
- 03
In-depth analysis
Each case undergoes detailed scientific re-analysis supported by advanced computational tools. Our approach integrates population and molecular genetics, functional genomics data, evolutionary conservation, probability models, clinical information, and structured literature analysis.
- 04
Results downloading and conversation with a specialist
The results can be downloaded confidentially, and an optional 20-minute conversation with a specialist will be available to address any questions or concerns.
Before You Start
What You Provide
Three inputs are enough to begin the review.
Anonymized
Input #01Document
Genetic test report
Patient identifiers should be removed whenever possible.
OnsetEvolutionCurrent
Input #02Clinical
Brief clinical summary
Describing onset, evolution, and current status.
Input #03Context
Relevant family history
If available.
Pricing
Our Three-Step Scientific Review Process
Transparent, flat pricing in U.S. dollars.
Full in-depth review
The complete scientific reassessment.
$359USD
Optional 20-minute virtual chat with specialist
A live conversation with our scientific team.
$130USD
Deliverables
What You Receive
Two clear outputs — written and, if you choose, spoken.
Report
Written scientific report
Structured written scientific report detailing technical aspects, variant analysis, and independent interpretation.
Optional consultation
Optional private discussion with the Scientific Director.
Scientific Direction
Who Reviews the Data
Professor Paul Laissue
Scientific Director
25 years experience
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.
Disclaimers
Important notice
- This service provides an independent scientific review of reported genetic findings.
- It is intended for scientific and educational purposes only and does not constitute medical diagnosis, treatment, genetic counseling, or medical advice.
- PLH Genetics does not establish a physician-patient relationship.
- All clinical decisions remain the sole responsibility of the treating healthcare professionals.
FAQ
Common questions
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 uncertainty.
Read the full VUS guide