We identify the cause, and we say plainly what we could not examine.
A complete diagnostic service for clinics and laboratories. Start from your own sequencing data or from a sample — the interpretation is ours, and it is signed.
Ten products, one commitment
Choose by clinical situation. Every product ends in a signed report with an explicit statement of what was evaluable and what was not.
Preventive Exome
Understand your genetic risk factors and plan individual health care.
Learn moreExome Focus
Phenotype-driven analysis when a specific condition is suspected.
Learn moreGene Panels by Indication
Targeted panels built around a clinical indication.
Learn moreSingle Gene & Familial Variant
Focused analysis of a single gene, or of a variant already known in the family.
Learn moreCarrier Screening
Individual or couple, before or during family planning.
Learn moreHereditary Cancer Predisposition
Tumour-predisposition panels for personal or family history.
Learn morePharmacogenomics
Prescribe on a phenotype, not on an assumption.
Learn moreSecond Opinion & Reanalysis
For results already issued, and questions that did not go away.
Learn morePolygenic Risk Scores
Multifactorial risk, with the ancestry made explicit.
Learn moreFor Laboratories
Run it under your own signature, or let us do the interpretation.
Learn morePreventive Exome
A broad look at clinically actionable genes in a person with no current symptoms, so prevention and surveillance can be planned on evidence rather than on family rumour.
- Clinically actionable disease-predisposition genes, reported against current expert-panel criteria
- Carrier status for recessive conditions relevant to family planning
- Pharmacogenomic section, with CYP2D6 interpreted on its own terms
- An explicit per-gene evaluability statement: which genes were examined, and which were not
- Secondary findings reported only where consent covers them
A preventive exome does not exclude disease. It reports what current evidence supports in the genes examined, and states plainly which genes could not be evaluated.
At a glance
- For whom
- Adults with no current symptoms who want a prevention plan, and clinicians running preventive medicine programmes.
- You send
- Existing exome data, or a saliva or blood sample if the sequencing has not been done
- You get
- Signed interpretation report, prioritised findings with evidence links, and the evaluability annex
- Turnaround
- 7 working days from sequencing data, or up to 30 working days from a sample
Exome Focus
The full exome is sequenced, but interpretation is focused on the genes relevant to the clinical question — so the report answers the question that was actually asked.
- Phenotype-driven prioritisation, HPO terms welcome
- ACMG classification with the full criteria ledger for every reported variant
- Reanalysis of the same data against a different phenotype if the picture changes
- Per-gene evaluability for the focused gene set
- Option to extend to the full exome without re-sequencing
Focusing interpretation is a clinical decision, not a technical shortcut: the data is complete, and the unexamined genes remain available for later reanalysis.
At a glance
- For whom
- Clinicians with a specific diagnostic suspicion, and laboratories that want a focused answer rather than a variant dump.
- You send
- Existing FASTQ or BAM, or a sample if the sequencing has not been done, plus the clinical question
- You get
- Signed interpretation report for the focused gene set, with the evidence behind each call
- Turnaround
- 7 working days from sequencing data, or up to 30 working days from a sample
Gene Panels by Indication
Curated gene sets by area — cardiology, neurology, ophthalmology, metabolic, immunology and others — for when the differential is already narrow.
- Panels defined by clinical indication, not by marketing convenience
- Custom panels assembled from your own gene list
- Per-gene coverage and evaluability reported for every panel
- Extendable to Exome Focus on the same data if the panel comes back negative
A negative panel result is only as strong as its coverage. Every panel report states which genes were fully evaluable and which were not.
At a glance
- For whom
- Specialist clinics and laboratories with a defined differential diagnosis.
- You send
- Existing data, or a sample if the sequencing has not been done, plus the panel or gene list
- You get
- Signed panel report with per-gene evaluability
- Turnaround
- 7 working days from sequencing data, or up to 30 working days from a sample
Single Gene & Familial Variant
The cheapest and fastest product in the catalogue, for when the target is already identified.
- Targeted analysis of one gene, or confirmation of a known familial variant
- Segregation testing across family members
- Classification with the full criteria ledger, so the family receives reasoning and not just a letter
- Explicit statement when the region cannot be evaluated by this method
Where a familial variant sits in a region this method cannot resolve, we say so rather than returning an unqualified negative.
At a glance
- For whom
- Families with an identified variant, and clinicians confirming a specific hypothesis.
- You send
- Existing data or a sample, plus the variant reference where known
- You get
- Signed report confirming presence, absence or non-evaluability
- Turnaround
- 7 working days from sequencing data, or up to 30 working days from a sample
Carrier Screening
Carrier status for recessive and X-linked conditions, reported individually or as a couple with the combined reproductive risk made explicit.
- Individual carrier report, for anyone who wants their own status
- Couple report, with the conditions where both partners carry a variant highlighted
- Extended or focused gene sets, depending on family history and origin
- Per-gene evaluability, so a non-carrier result is distinguishable from an unexamined gene
- Written for a couple to read, with the residual risk stated
Carrier screening reduces reproductive risk; it does not eliminate it. Residual risk after a negative result is stated in every report.
At a glance
- For whom
- Individuals and couples planning a pregnancy, fertility clinics and family-planning services.
- You send
- Existing data or a sample, per person
- You get
- Signed individual report, and a combined couple report where both partners are tested
- Turnaround
- 7 working days from sequencing data, or up to 30 working days from a sample
Hereditary Cancer Predisposition
Germline analysis of cancer-predisposition genes, with the classification reasoning attached so an oncologist or genetic counsellor can act on it.
- Panels for breast and ovarian, colorectal, endocrine and multi-tumour syndromes
- Classification against current expert-panel specifications where they exist
- Reanalysis of previously reported VUS against updated evidence
- Per-gene evaluability, including the genes short-read methods struggle with
This is germline predisposition testing. It is not tumour profiling and does not replace somatic testing of tumour tissue.
At a glance
- For whom
- Oncology and genetic counselling units, and clinics with patients who have a family history.
- You send
- Existing data, or a sample if the sequencing has not been done
- You get
- Signed germline predisposition report with the full criteria ledger
- Turnaround
- 7 working days from sequencing data, or up to 30 working days from a sample
Pharmacogenomics
Our signature line. CYP2D6 is interpreted on its own terms — including copy number, deletions and duplications — instead of being inferred from a variant file that never had the reads to begin with.
- CYP2D6 diplotype, copy number, metaboliser phenotype and activity score
- Full panel of genes with a current CPIC or DPWG guideline
- Indication reports for psychiatry, oncology and pain management
- Drug-level implications tied to the inferred phenotype, not a generic table
- Any gene below coverage threshold declared, never reported as normal
- Re-issuable as an addendum when guidelines change
Verified against certified reference materials, including whole-gene deletion and duplication. Materials, results and method are in technical note NT-PGX-001, available under NDA.
At a glance
- For whom
- Psychiatry, oncology, pain management and any clinic prescribing phenotype-dependent drugs.
- You send
- Existing BAM, FASTQ or VCF, or a sample if the sequencing has not been done
- You get
- Signed pharmacogenomic report with per-gene evaluability, plus structured data
- Turnaround
- 7 working days from sequencing data, or up to 30 working days from a sample
Second Opinion & Reanalysis
Three products for cases that are already closed: an audit of whether the negative could be supported at all, a full reinterpretation, and reclassification of a variant backlog.
- Evaluability audit — per-gene verdict on whether a previous negative could be supported, with the regions that were never resolved listed explicitly
- Second read — full reinterpretation with the clinical question back in front of the data
- VUS reclassification — variants re-run against current evidence, with a change log
- Delivered per case or per batch, with volume pricing
Frequently the cheapest way to decide whether a case is worth reopening — before spending on new sequencing.
At a glance
- For whom
- Laboratories with negative cases and persistent clinical suspicion, and units with a VUS backlog.
- You send
- Existing BAM, FASTQ or VCF, the panel or gene list, and the clinical question
- You get
- Signed report per product, usable as evidence inside your own quality system
- Turnaround
- 7 working days from data receipt
Polygenic Risk Scores
Polygenic scores for common multifactorial conditions, computed against reference panels with explicit ancestry inference, so a percentile means the same thing across Iberian and admixed Latino populations rather than only in the cohorts most scores were derived from.
- Per-trait scores with the ancestry inferred, the reference used and the calibration applied
- Reported as a percentile within the inferred population, not as an isolated number
- Coverage gates that decide whether a score is reportable at all — a score that cannot be supported is declared, not published
- Available as a section within the Preventive Exome, or as a standalone report
- Cohort and biobank profiling for research groups, priced per sample
- Full run traceability: reference, ancestry and calibration recorded for every score
A polygenic score is a risk modifier, not a diagnosis and not a monogenic result. It is interpreted alongside clinical and family risk factors by the referring professional, and our published work on this module is an analytical validation of the computation rather than evidence of predictive validity in a given population.
At a glance
- For whom
- Preventive medicine clinics, laboratories building risk-stratification programmes, and research groups working with cohorts.
- You send
- VCF or genotype data, individually or as a cohort, or an existing exome
- You get
- Signed polygenic risk report with the ancestry and calibration recorded, plus structured data
- Turnaround
- 7 working days from data receipt
For Laboratories
Two ways to work with laboratories that already have their own accreditation and their own clinical responsibility.
- White-label interpretation — we interpret, you issue and sign under your own brand and accreditation
- Platform licence — the full platform in your own tenant, supplied as General Laboratory Use software
- Analytical dossiers supplied for validation inside your quality system
- Volume agreements, structured output and the full audit trail
Your quality system, your signature. We supply the interpretation layer and the evidence behind it.
At a glance
- For whom
- Clinical and research laboratories with their own authorisation and quality system.
- You send
- Data through a secure channel, or nothing at all if you licence the platform
- You get
- Interpretation and structured data ready for your report, or a tenant of your own
- Turnaround
- Onboarding agreed per laboratory
How to order, and what happens next
Everything a clinic needs to send the first case.
Request and consent
A requisition form with the clinical question, and written informed consent for genetic analysis. We supply both templates.
Sample or data
Existing FASTQ, BAM, CRAM or VCF uploaded securely to an EU region — or saliva or blood with a kit we send you, if the sequencing has not been done.
Analysis and review
The chain runs with all versions recorded, and our clinical team reviews the evidence before anything is written.
Signed report
A structured report with a named signature, sent to the referring professional, plus machine-readable output and the evaluability record.
Who does what
This is the part most diagnostic services leave vague. We would rather state it before you ask.
What Innovare does
- Arranges sequencing where a case starts from a sample, rather than from data you already hold.
- Runs the analysis and the interpretation, with full version traceability.
- Declares what was evaluable and what was not, gene by gene.
- Issues the report with a named signature from our clinical team.
What stays with the referring professional
- The clinical decision and its communication to the patient.
- Informed consent, and genetic counselling where it is required.
- Clinical context, phenotype and family history supplied with the request.
- Any confirmatory or orthogonal testing the report recommends.
Polygenic risk scores estimate multifactorial risk and are interpreted alongside clinical and family risk factors; they are not a diagnosis and do not replace monogenic testing. Genetic analyses are performed and reported in accordance with the applicable requirements for genetic testing, including informed consent and genetic counselling.
Start with one case
Send us the case you are least sure about — ideally one where you suspect the answer was never actually computed. We will tell you what we can resolve before you commit to anything.