Got a genetic test result you don't understand?
Send us your exome, genome or gene panel report. Our scientific team reviews it independently and gives you a written report, in plain language, explaining what your result actually says.
- Reviewed by Prof. Paul Laissue and team
- Confidential, encrypted upload
- 100% online, from any country
Three steps, all online
The $55 initial screening is the first paid step. It is not automated: a scientific team reads your report and tells you what it found.
- 01
Start your $55 screening
You create your account and pay the $55 initial screening on our secure patient portal. One payment, no subscription, no hidden fees.
- 02
Upload your report
Add your exome (WES), genome (WGS) or multigene panel report and a short summary of your situation. Remove patient identifiers whenever you can.
- 03
Get a clear scientific review
Our team reviews your file and sends you a written report in plain language: what was found, what it means scientifically, and what is still uncertain.
A report you can actually read
No jargon, no copy and paste of the laboratory wording. Your findings, explained.
Your result in plain language
What the report says, written for you rather than for specialists, in a document you can keep and share with your healthcare team.
Your variants, one by one
Which findings are relevant, which are likely harmless, and which remain a Variant of Uncertain Significance (VUS).
The reasoning behind it
You see the scientific evidence supporting each interpretation, so you understand why a variant is classified the way it is.
An honest view of the limits
Where the science is still open, we say so, and we tell you whether a deeper analysis would add anything in your case.
If the screening shows that a deeper analysis is worthwhile, the full in-depth review ($359) and an optional 20-minute conversation with a specialist ($130) are available as separate steps. You decide after the screening, never before.
Who this scientific review is for
A good fit if
- You have an exome (WES), genome (WGS) or multigene panel result you cannot make sense of.
- Your report came back inconclusive, or with a Variant of Uncertain Significance (VUS).
- You want an independent scientific reading of a report you already have.
- You or your child are being studied for a rare or still undiagnosed condition.
- You want to understand your result before your next appointment with your healthcare team.
Not the right fit if
- Your report is about cancer or hereditary cancer risk. Oncology cases are outside our scope at this time.
- You do not have a genetic test report yet. We review results that already exist; we do not order or run tests.
- You are looking for clinical decisions or care recommendations. Those stay with your treating healthcare professionals, and our review supports that conversation.
Scientists who work with rare diseases every day
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, with more than 25 years of research in molecular genetics, functional genomics and quantitative genetics.
The team's focus is rare and undiagnosed disease, exactly where reports most often come back inconclusive and where a careful, independent scientific reading changes what a family understands about their result.
We follow the international scientific standards used to classify genetic variants (ACMG criteria, together with public reference databases such as ClinVar and gnomAD), so every conclusion in your report can be traced back to published evidence.
Before you start
Start with the $55 screening
One payment, one clear answer about what your genetic report really says.
$55 USD, one-time. You create your account and pay securely on our patient portal.
Important notice
- PLH Genetics provides an independent scientific review of reported genetic findings.
- The service is scientific and educational in nature. It does not constitute medical diagnosis, treatment, genetic counseling, or medical advice, does not replace the care of your treating healthcare professionals, and does not create a physician-patient relationship.
- Cancer-related tests are not analysed at this time.
- Conclusions depend on the information contained in your report and on the scientific evidence available at the time of review. No specific outcome is promised.
One-time payment, USD