Did your genetic test fail to explain the cause of your condition?
Some genetic test results do not provide a clear explanation for a patient’s condition, which can be frustrating for patients, families, and healthcare professionals. At PLH Genetics, we review each case independently, explain why the result may have remained inconclusive, and provide additional scientific information to support its interpretation, including an in-depth analysis of Variants of Uncertain Significance (VUS).
$199 USD initial screening, per case
Independent scientific review, for scientific and educational purposes. It is not a medical diagnosis, treatment, genetic counseling or medical advice.
- Every case reviewed by Prof. Paul Laissue, MD, MSc, PhD
- Screening outcome within five business days
- Entirely online, wherever you are
An inconclusive result is a statement about the evidence, not about you
A genetic test can be correctly indicated and technically well performed and still not explain a clinical picture. Understanding why is the first step, and it is rarely explained in the report itself.
The evidence was not sufficient
A variant is reported as uncertain when the available data cannot place it as benign or as disease causing. That is a limit of what is known today, not a finding about your health.
Classifications change over time
As data accumulates, variants move between categories. Most reclassifications resolve toward benign, which can lift years of worry. A smaller share move toward pathogenic and can finally explain a long clinical history.
The report answers a narrow question
A laboratory report states what was found and how it was classified. It rarely explains what the result can and cannot conclude, or what would be needed to go further. That explanation is the work we do.
What this is not
It is not a promise of an answer. A meaningful number of cases remain unresolved even after an in-depth review, and when that happens we say so plainly, with the reasoning behind it. What changes is that your findings have been examined independently, against the evidence available today.
An independent scientific review, not another laboratory test
You already paid for the sequencing. This is an independent reading of the findings reported to you, carried out separately from the laboratory that issued them.
ACMG and ClinVar, in plain language
The ACMG and AMP guidelines are the international rulebook laboratories use to place a variant on a five step scale, from benign to pathogenic. ClinVar is the public database where laboratories worldwide deposit those classifications. Both change over time, and that is precisely why revisiting a result can be worth it.
A clear explanation of your result
What test was performed, what it was looking for, what the findings mean, and just as important, what the result can and cannot conclude about the clinical situation.
Reassessment of the reported findings
Each reported variant is weighed again against current evidence: population frequency, computational predictions, evolutionary conservation, functional data and the classification criteria in use today.
Literature and gene review
A structured search for publications, newly described gene to disease associations and functional studies that appeared after your original report was issued.
A written report in plain language
What was reviewed, what was found, what remains uncertain, and which points may be worth discussing with your treating team. Written for families, with the scientific detail a physician needs.
Three steps, starting with the $199 review
The first step exists so that no family pays for an in-depth review that cannot be justified scientifically. It is the only step you commit to today.
Start the $199 screening
You create your account in our secure patient area, upload what you have and pay the $199 initial screening. That fee covers the first expert look at your case.
We review your report
You send the genetic test report you already have, together with a short clinical summary describing onset and evolution, and relevant family history.
You get an honest answer
Within five business days you receive the outcome: what your result does and does not explain, and whether an in-depth analysis of the reported findings is scientifically warranted in your case. If it is not, we tell you. That in-depth review is a separate, optional step, currently $349 USD.
What you need to have
The laboratory report is enough to begin. We work from the findings that were reported to you, so you do not need to obtain raw sequencing files from the laboratory.
$199 USD initial screening, per case
This page is written for one specific situation
A good fit if you have
- A genetic test result that did not explain the clinical situation
- An exome, genome or panel result reported as negative or inconclusive
- A Variant of Uncertain Significance (VUS) that was never resolved
- A report you were handed without an explanation you could follow
- A wish for an independent scientific opinion on findings you already have
Not the right fit if
- The situation is urgent. This is a scientific review and it does not replace clinical care.
- You are looking for a diagnosis, a prescription or a treatment plan. Those decisions belong to your treating physicians.
- You do not have a genetic test report yet. The review starts from a result that already exists.
Who reads your data
Professor Paul Laissue MD, MSc, PhD
Scientific Director, PLH Genetics
Every case is reviewed and validated by Professor Paul Laissue, Scientific Director of PLH Genetics, a molecular geneticist with more than 25 years of experience in molecular genetics, functional genomics and quantitative genetics research.
His research career has centered on rare diseases: identifying the molecular basis of conditions that resist diagnosis, and interpreting genetic findings whose meaning is not yet settled. That is exactly the work your case receives.
- MD, MSc, PhD
- Molecular genetics
- Functional genomics
- Rare disease research
- 25+ years
Questions families ask before starting
One more careful look at data you already have
If your result came back negative or inconclusive, this is a low commitment way to understand what it does and does not explain, and whether an in-depth analysis makes sense in your case.
$199 USD initial screening, per case
Screening outcome within five business days. The full review is optional and only offered when there is scientific ground for it.
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.
- Outcomes are not guaranteed. A scientific review may or may not change the interpretation of your findings.