Tell us what you have, before you commit it
Tell us the sample volumes available, the targets that matter, and whether an assay exists for them. We will tell you what is realistically measurable, whether custom development is needed, and whether a pilot should come first. That reply comes within one working day.
In rare disease the samples are frequently irreplaceable, and finding out what is possible costs you a conversation. Finding out afterwards costs you the cohort.
HOW IT WORKS
When every sample matters
Sample volume may be extremely limited
Paediatric draws, CSF and longitudinal biobank material cannot support repeated conventional assay workflows. Every analysis you run is one you cannot run again.
The biomarker may not have an assay yet
Rare and monogenic diseases frequently involve novel or low-abundance targets for which commercial assay development was never economically viable. The absence of an assay is not evidence the biology does not matter.
The biology may be heterogeneous
Small cohorts can contain biologically distinct patient groups. A fifty-patient cohort may really be three cohorts, and broad profiling with genotype-phenotype context is how you find that out.
The analytical workflow therefore has to extract as much biological information as possible from material that may be impossible to replace.
the strategy
Choose the analytical strategy around what cannot be replaced
1. Extract more from less
2. Resolve ultra-low and established targets
3. Build what does not exist
4. Connect biomarker to genotype
Applications
The practical detail
Turnaround
Two weeks from sample receipt, confirmed at quote. Custom development quoted separately by phase
Quote
Sample confirmation
Minimum volume
Matrices
Custom development
Cohort size
Quality framework
why Altheome
Rare disease work needs a bespoke approach
Rare disease studies rarely fit a standard workflow. Cohorts are small, samples are irreplaceable and often low-volume, and the target you need may have no commercial assay.
Every study starts with its own conversation about sample volume, matrix, target and what success looks like.
A named senior scientist is accountable for your study from design through to delivery – and the person who scopes the work is the person who signs off the data.
Why you can trust this now
We are a small laboratory. For rare disease that is an advantage. A twelve-sample study is scoped and run by the same senior scientists who take on a four-hundred-sample one, and it does not wait behind the bigger job. If your cohort is small because the disease is rare, we treat that as a scientific constraint and design around it.