Your exome came back negative. The questions didn’t stop.
PLH Genetics performs an independent scientific reanalysis of exome and genome data for rare disease cases that remain unresolved. The same data, read again against the evidence available today, by a molecular geneticist who has spent 25 years in rare disease. We cannot promise an answer. We can promise an honest, documented second reading.
$55 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
Your report is a snapshot of what was known that day
Genetic reports are dated documents. The evidence behind them keeps moving, and a negative or inconclusive result often says more about the state of the science at the time than about your data.
Knowledge moves, reports don’t
New gene to disease associations are published continuously and reference databases grow every month. A report written two or three years ago was interpreted against a smaller body of evidence than exists today.
Variants can be reclassified
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.
A fresh scientific reading
A different team, different computational tools and current databases can surface signals a first pass could not, including genes that were not yet linked to disease when your sample was analyzed.
What a reanalysis is not
It is not a promise of an answer. A meaningful number of cases remain unresolved even after a full review, and when that happens we say so plainly, with the reasoning behind it. What changes is that your data has been examined again, in depth, against the evidence available today.
An independent scientific reanalysis, not another laboratory test
You already paid for the sequencing. This is a second scientific reading of the data and the report you already have, carried out independently of 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.
Variant reassessment
Every 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.
Computational and population genetics
Advanced computational tools, probability models and molecular and population genetics applied to your data and your clinical context.
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.
Three steps, starting with the $55 screening
The screening exists so that no family pays for a full review that cannot be justified scientifically. It is the first and only step you commit to today.
Start the $55 screening
You create your account in our secure patient area, upload what you have and pay the $55 initial screening. That fee covers the first expert look at your case.
We look at your data
The original genetic test report, the raw data file from your exome or genome when you have it, a short clinical summary describing onset and evolution, and relevant family history.
You get an honest answer
Within five business days you receive the screening outcome: whether a full in depth reanalysis is scientifically feasible and worth doing in your case. If it is not, we tell you. The full review is a separate, optional step, currently $359 USD.
About your data files
Many families have the PDF report but not the raw data file (VCF) from the laboratory. Bring what you have. The screening tells you exactly what else would be needed, and laboratories can usually release the raw file on request.
$55 USD initial screening, per case
This page is written for one specific situation
A good fit if you have
- A rare disease that remains undiagnosed after years of testing
- An exome or genome result reported as negative or inconclusive
- A Variant of Uncertain Significance (VUS) that was never resolved
- A genetic report that is a few years old and has never been revisited
- A wish for an independent scientific opinion on data you already have
Not the right fit if
- The case is oncology or hereditary cancer. Cancer related tests are not analyzed at this time.
- 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.
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 exome or genome came back negative or inconclusive, the screening is a low commitment way to find out whether a full scientific reanalysis makes sense in your case.
$55 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 reanalysis may or may not change the interpretation of your findings.