Genomic interpretation that says plainly what it could not examine .

Preventive Exome

Actionable genes, carrier status and drug response, read together in one exome.

Whole genome

Preventive Genome

The preventive read of a whole genome, with polygenic risk added.

Whole genome

Complete Genome

Every layer: structural variants, repeats, HLA and pseudogenes.

Focused on a questionexome or genome data

Exome Focus

Phenotype-driven analysis when you already know the question.

Gene Panels by Indication

28 curated panels, from cardiology to immunology.

Single Gene & Familial Variant

One gene, or a variant already known in the family.

Hereditary Cancer Predisposition

Germline panels for breast, ovarian, colorectal and endocrine tumours.

Family planningindividual or couple

Carrier Screening — Individual

Recessive and X-linked carrier status, with the limits of the screen stated.

Carrier Screening — Couple

Two screens read together, with the combined risk made explicit.

Drug response and riskpharmacogenomics and polygenic scores

Pharmacogenomics

Drug response read from the genotype, CYP2D6 copy number included.

Whole genome

Polygenic Risk Scores

Multifactorial risk, with the ancestry made explicit.

Existing cases and partnerssecond opinions and laboratories

Your existing results

Second Opinion & Reanalysis

For results already issued, and questions that did not go away.

Partnership

For Laboratories

Run it under your own signature, or let us do the interpretation.

Which service fits?

What each service includes

The preventive services bundle independent modules; the focused services go deep on one question. Use the table to see where each module lives.

Which modules each service includes
Service	Starts from	Variant interpretation	Structural and repeat layers	Carrier status	Pharmacogenomics	Polygenic risk
Preventive Exome	Exome or genome	Actionable genes	—	●	●	—
Preventive Genome	Whole genome	Actionable genes	SMN1 copy number	●	●	●
Complete Genome	Whole genome	Actionable genes	Genome-wide CNV/SV, repeats, HLA/KIR, pseudogenes	●	●	●
Exome Focus	Exome or genome	Focused gene set	—	—	—	—
Gene Panels	Exome or genome	Indication panel	—	—	—	—
Single Gene & Familial Variant	Exome or genome	Target gene or variant	—	—	—	—
Hereditary Cancer	Exome or genome	Cancer panels	Deletions and duplications in panel genes	—	—	—
Carrier Screening	Exome or genome	—	SMN1 copy number (genome)	●	—	—
Pharmacogenomics	Exome or genome	—	CYP2D6 copy number, HLA	—	●	—
Polygenic Risk Scores	Whole genome	—	—	—	—	●

Second Opinion & Reanalysis and the services for laboratories work on results and data you already hold, so they are described below rather than compared here.

INN-EX-01

Preventive Exome

A broad look at medically actionable genes, carrier status and drug-response genes in a single exome analysis, for prevention-oriented programmes that start without one specific question.

Medically actionable genes, including the ACMG secondary-findings list, reported against current expert-panel criteria
Carrier status for recessive and X-linked conditions, at the screening level you choose
A complete pharmacogenomics section, with CYP2D6 interpreted on its own terms
ACMG/AMP classification of every reported variant, with the criteria behind each call
An optional phenotype-driven section (HPO terms welcome) placed ahead of the preventive modules when a question exists
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 rule out a genetic condition. It reports what current evidence supports in the genes examined, and states plainly which genes could not be evaluated.

At a glance

For whom: Preventive-medicine centres, hospital units and laboratories offering preventive genomics from an exome.
You send: Existing exome or genome data, or a saliva or blood sample if the sequencing has not been done
You get: Interpretation report, prioritised findings with their evidence, and the evaluability annex
Turnaround: 7 working days from sequencing data, or up to 30 working days from a sample

INN-GEN-01

Preventive Genome

The Preventive Exome applied to a whole genome, with polygenic risk added as a fifth module. One sequencing run, five modules that stand on their own.

Medically actionable genes, including the ACMG secondary-findings list, with consent
Carrier status at the screening level you choose, with SMN1 copy number for spinal muscular atrophy
The complete pharmacogenomics report
Polygenic risk with the ancestry inferred and the calibration recorded
ACMG/AMP classification of whatever is found, with an optional phenotype-driven section ahead of the modules
Per-gene evaluability for every module

A genome gives more uniform coverage than an exome, but the variant interpretation of this service stays within the exome (coding exons and splice sites) and the report says so. Structural variants and repeat expansions belong to the Complete Genome.

At a glance

For whom: Preventive-medicine centres and laboratories that want preventive genomics, polygenic risk included, in a single analysis.
You send: Whole-genome data at 30x or higher, or ask us about whole-genome sequencing from a sample
You get: Interpretation report with five independent modules and per-gene evaluability
Turnaround: 7 working days from sequencing data. From a sample, we confirm the date when the case is accepted

INN-GEN-02

Complete Genome

Everything in the Preventive Genome, plus the layers that an exome, and most pipelines, cannot see: copy-number and structural variants, repeat expansions, HLA and KIR types, and genes hidden by pseudogenes.

Structural variants classified with ACMG/ClinGen criteria; positive events are flagged for orthogonal confirmation
Repeat-expansion loci with thresholds, coverage and a verdict for each locus
Predictive protocol: late-onset neurodegenerative loci, Huntington disease among them, are withheld from the report unless specific consent exists
The blind regions of every method are listed, so a gap is never presented as a clear result
Per-layer evaluability, in the same report as the preventive modules

Mitochondrial DNA and runs of homozygosity are not analysed yet. The report declares them as not analysed instead of implying that they were examined.

At a glance

For whom: Specialist centres and reference laboratories that want the whole genome read in one report.
You send: Whole-genome data at 30x or higher, or ask us about whole-genome sequencing from a sample
You get: Interpretation report with every layer, its evaluability and its blind regions
Turnaround: 7 working days from sequencing data. From a sample, we confirm the date when the case is accepted

Nine layers in one report

The first five come from the Preventive Genome. The last four are what the Complete Genome adds.

Included from the Preventive Genome

Sequence variants

SNVs and small indels in the exome (coding exons and splice sites), classified with ACMG/AMP criteria.

Actionable genes

Medically actionable genes, including the ACMG secondary-findings list, with consent.

Carrier status

Recessive and X-linked conditions, with SMN1 copy number on whole-genome data.

Pharmacogenomics

The complete gene–drug report, CYP2D6 copy number included.

Polygenic risk

Percentiles within the inferred ancestry, behind a coverage gate.

Added in the Complete Genome

Copy-number and structural variants

Genome-wide, not limited to a panel, classified with ACMG/ClinGen CNV criteria.

Repeat expansions

Repeat-expansion loci with thresholds and a predictive-testing protocol.

HLA and KIR

HLA alleles with their pharmacogenetic implications, and KIR genes.

Genes hidden by pseudogenes

SMN1/SMN2, GBA and PMS2 resolved with dedicated methods, and declared where they cannot be.

INN-EX-02

Exome Focus

The full exome is sequenced, but interpretation is focused on the genes relevant to the question being asked, so the report answers the question instead of listing every variant.

Phenotype-driven prioritisation, HPO terms welcome
ACMG/AMP classification with the full criteria ledger for every reported variant
Reanalysis of the same data against a different question if the picture changes, with no new sequencing
Per-gene evaluability for the focused gene set
Option to widen the analysis to the full exome without re-sequencing
Secondary findings from the ACMG list, only where consent covers them
Variant types this service does not analyse, such as copy-number variants, are named in the report

Focusing the interpretation is a scientific choice, not a technical shortcut: the data is complete, and the genes that were not examined stay available for later reanalysis.

At a glance

For whom: Specialists and laboratories with a defined phenotype or a short list of candidate conditions who want a focused answer rather than a variant dump.
You send: Existing FASTQ, BAM or VCF, or a sample if the sequencing has not been done, plus the question and phenotype
You get: 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

INN-PAN-01

Gene Panels by Indication

Curated gene sets for 28 indications, from cardiology and neurology to nephrology, metabolism and immunology, for when the list of candidate conditions is already narrow.

Panels defined by indication, built from high-confidence gene–disease evidence
Several panels can be run on the same data, each delivered as its own report
Per-gene coverage and evaluability reported for every panel
Genes of the indication without enough coverage are listed, so a negative is only stated where the region was well covered
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. Need a gene set that is not on the list? Ask us.

At a glance

For whom: Genetics units, specialist centres and laboratories with a defined indication.
You send: Existing data, or a sample if the sequencing has not been done, plus the panel you want
You get: Panel interpretation report with per-gene evaluability
Turnaround: 7 working days from sequencing data, or up to 30 working days from a sample

The 28 indication panels

Each panel is a curated set of genes with high-confidence gene–disease evidence for that indication. Several panels can be run on the same data, each as its own report.

Cardiology and vascular

Inherited cardiomyopathiesInherited arrhythmias and channelopathiesThoracic aortic aneurysm and dissectionFamilial hypercholesterolaemiaInherited cardiac conditions (comprehensive)

Cancer

Hereditary cancer (comprehensive)Hereditary breast and ovarian cancerHereditary colorectal cancer and polyposisMultiple endocrine tumours, phaeochromocytoma and paraganglioma

Neurology and neuromuscular

Hereditary ataxiasEarly-onset or syndromic epilepsyHereditary spastic paraplegiaHereditary neuropathiesMuscular dystrophies and myopathiesALS / motor neuron disease and early-onset dementiaParkinson disease and complex parkinsonism

Hearing and vision

Monogenic hearing lossRetinal disorders

Kidney and metabolism

Unexplained kidney failure in young peopleCystic kidney diseaseMonogenic diabetesLysosomal storage disordersMitochondrial disorders

Blood and immunity

Bleeding and platelet disordersThrombophilia with a likely monogenic causePrimary immunodeficiency

Development and skeleton

Intellectual disabilitySkeletal dysplasia

INN-SG-01

Single Gene & Familial Variant

The most focused product in the catalogue, for when the target is already identified.

Targeted analysis of one gene, or confirmation of a known familial variant
Segregation analysis across relatives, with each family member’s status taken into account
Classification with the full criteria ledger, so the reasoning travels with the result
Coverage of the target region exon by exon, so “not found” is only stated where the region was well covered
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: Specialists and laboratories with an identified variant in a family, or a specific hypothesis to confirm.
You send: Existing data or a sample, plus the gene or the variant (HGVS) where known, and relatives’ data for segregation
You get: Interpretation report confirming presence, absence or non-evaluability
Turnaround: 7 working days from sequencing data, or up to 30 working days from a sample

INN-ONC-01

Hereditary Cancer Predisposition

Germline analysis of cancer-predisposition genes, with the classification reasoning attached so the evidence can be reviewed line by line.

Four panels: breast and ovarian, colorectal and polyposis, endocrine tumours (including phaeochromocytoma and paraganglioma), and a comprehensive hereditary-cancer panel
Classification against current expert-panel specifications where they exist
Deletions and duplications analysed in the panel genes
Genes that short-read methods struggle with, such as PMS2, handled with a dedicated approach and declared where they cannot be resolved
Reanalysis of previously reported VUS against updated evidence
Per-gene evaluability for every panel

This is germline predisposition analysis. 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 laboratories testing individuals and families with suspected hereditary cancer.
You send: Existing data, or a sample if the sequencing has not been done
You get: Interpretation report on germline predisposition, with the full criteria ledger
Turnaround: 7 working days from sequencing data, or up to 30 working days from a sample

INN-CAR-01

Carrier Screening — Individual

Carrier status for recessive and X-linked conditions in one individual, with the screening level chosen to fit the question and the limits of the screen written down.

Four screening levels, from a minimal set to an extended panel; the default follows the level recommended by ACMG
Only pathogenic and likely pathogenic variants are reported
Per-gene evaluability, so a non-carrier result is distinguishable from a gene that was not examined
Genes that short-read methods cannot resolve are handled with dedicated methods or declared as not evaluable
On whole-genome data, SMN1 copy number for spinal muscular atrophy is added, with its residual risk stated

Carrier screening lowers the chance of an unrecognised carrier state; it does not remove it. Every report says so, and where a published residual-risk figure exists (SMN1) it is stated.

At a glance

For whom: Fertility and reproductive-medicine centres, genetic-counselling services and laboratories offering carrier screening.
You send: Existing exome or genome data, or a sample, for the individual
You get: Individual carrier interpretation report with per-gene evaluability
Turnaround: 7 working days from sequencing data, or up to 30 working days from a sample

INN-CAR-02

Carrier Screening — Couple

The same screen applied to two people and read together: the report puts first the genes where both partners carry a variant, and states the combined reproductive risk.

Both partners screened at the same level, so the comparison is like for like
Genes where both carry a variant highlighted, with the risk stated per pregnancy (for example 1 in 4 for an autosomal recessive condition)
X-linked conditions handled separately, with their own reading of the risk
Per-gene evaluability for both partners, so a gene not examined in one of them is never read as clear
A plain-language version alongside the technical report
If the partner was screened elsewhere, only the genes covered by both screens are crossed; the rest are listed as pending

A couple report is only as complete as the weaker of the two screens. Where a gene could not be evaluated in either partner, the report says so.

At a glance

For whom: Fertility centres and reproductive-medicine services screening couples.
You send: Data or samples for both partners
You get: A combined couple report, with the individual carrier results behind it
Turnaround: 7 working days from sequencing data, or up to 30 working days from a sample

INN-PGX-01

Pharmacogenomics

Our flagship service. 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
Gene–drug recommendations from CPIC (levels A and B) and DPWG, covering more than 130 drugs
HLA typing with a hypersensitivity sub-panel (abacavir, carbamazepine, oxcarbazepine, phenytoin, allopurinol, dapsone); positives require allele-specific confirmation
Complete report, or one therapeutic area at a time, without repeating the analysis
Drug-level implications tied to the inferred phenotype, not a generic table
Genes with one or two unconfirmed positions are shown as “evaluated with caveat”, the rest as “not evaluable”; a gene below the coverage threshold is 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: Hospital pharmacy and pharmacology units, psychiatry, oncology and cardiology services, and laboratories offering pharmacogenomic testing.
You send: Existing BAM, FASTQ or VCF, or a sample if the sequencing has not been done
You get: Pharmacogenomic interpretation report with per-gene evaluability, plus structured data
Turnaround: 7 working days from sequencing data, or up to 30 working days from a sample

One analysis, ten therapeutic areas

The genotype does not change, so the analysis is done once. The report can be issued in full, or limited to one area, and a different area can be issued later without repeating the analysis.

Psychiatry and mental healthInfectious diseasesCardiology and anticoagulationPain and anaesthesiaOncologyGastroenterologyNeurologyHaematology (G6PD deficiency)Rheumatology, immunology and transplantMetabolic and other

INN-PRS-01

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
Delivered as a standalone report, and included in the Preventive Genome and the Complete Genome
Cohort and population-programme profiling
Full run traceability: reference, ancestry and calibration recorded for every score

A polygenic score is a risk modifier, not a yes-or-no result and not a monogenic one. It is interpreted alongside personal 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 services and laboratories that want an ancestry-aware polygenic estimate alongside personal and family risk factors.
You send: Whole-genome data at 30x or higher (VCF, CRAM or FASTQ), individually or as a cohort
You get: Polygenic risk interpretation report with the ancestry and calibration recorded, plus structured data
Turnaround: 7 working days from data receipt

INN-QC-01

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 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

Often the most efficient way to decide whether a case is worth reopening, before investing in new sequencing.

At a glance

For whom: Specialists and laboratories with negative cases and a persistent suspicion, and units with a VUS backlog.
You send: Existing BAM, FASTQ or VCF, the panel or gene list, and the question
You get: Interpretation report per product, usable as evidence inside your own quality system
Turnaround: 7 working days from data receipt

INN-LAB-01

For Laboratories

Two ways to work with laboratories that already have their own accreditation and their own responsibility for what they issue.

White-label interpretation — we interpret, you review, sign and issue under your own brand and quality system
Platform licence — the full platform in your own tenant
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: Genetic and reference laboratories with their own 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