Two tests.
One curated knowledgebase.
Reproductive carrier status, medically actionable findings and pharmacogenomics, interpreted against Indian population data rather than a European reference, with a report that states what it did and did not look at.
Pre-launch. The sequencing and imputation layer is validated on public genomes; clinical validation of the assays with our partner laboratory is in progress, and tests become orderable on its completion.
| Class | Screen | Genome |
|---|---|---|
| Rare pathogenic carrier variants | Observed | Observed |
| Novel / previously unreported variants | Not assessed | Observed |
| Spinal muscular atrophy (SMN1) | Bundled assay | Paralogue-aware caller |
| CYP2D6 full diplotype | Partial | Full, incl. deletions, duplications, hybrids |
| Structural variants, inversions, translocations | Not assessed | Observed |
Observed, imputed, covered by a bundled assay or not assessed: the same statement appears in every report.
Genavli interprets; an accredited laboratory sequences and confirms.
Expert-panel criteria where they exist; every call carries its evidence.
GenomeIndia allele frequencies with gnomAD South Asian data, thresholds recalibrated.
Processed and stored in asia-south1 under the DPDP Act, 2023.
Pre-conception and postnatal use. No prenatal testing; no polygenic scores on clinical reports.
Every figure on this page and in every report says how it was counted.
Variant calling and imputation on GIAB and South Asian reference genomes, by depth and allele frequency.
A European reference misprices Indian risk
Most screening panels are curated from predominantly European cohorts. Applied in India, two things go wrong: variants that are common here are missing from the content, and the population frequencies used to classify them come from the wrong denominator.
Genavli's knowledgebase starts from the GenomeIndia allele-frequency release intersected with gnomAD South Asian data, layered over the public clinical evidence base. Classification thresholds are recalibrated on South Asian frequencies rather than inherited from global figures. Consanguinity is measured from the assay, not assumed from a self-reported pedigree.
A founder MYBPC3 intronic deletion associated with cardiomyopathy sits near 3% allele frequency in two independent Indian datasets and near 0.2% globally. A pipeline that classifies on global frequency understates the Indian allele burden roughly eighteen-fold.
Six report modules, one evidence standard
Both tests draw on the same knowledgebase, classification framework and report structure. They differ in what the underlying assay can physically detect, and the report says so per module.
Couple-level interpretation of autosomal-recessive and X-linked conditions, with residual risk after a negative result.
The 84 ACMG SF v3.3 genes, reported at individual level under separate consent, with a stated management pathway.
96 CPIC Level A gene–drug pairs with the diplotype, the phenotype and the prescribing guidance that follows from it.
Runs of homozygosity measured from the assay, not assumed from a pedigree, feeding consanguinity-adjusted risk.
Wellness report, separate from the clinical report: ancestry composition and research-grade traits with Indian reference percentiles.
Genavli Genome samples are stored and can be reinterpreted when the knowledgebase changes, without a new sample.
Same knowledgebase. Two ways to read it.
Genavli Screen
Carrier & Actionable Screen — entry tier
A low-pass genome backbone for ancestry, traits and predisposition, plus a high-depth targeted read of the clinical gene set so that rare carrier and actionable variants are observed directly, never inferred. Bundled confirmatory assays cover spinal muscular atrophy, thalassaemia and fragile X, which no short-read method resolves alone.
- 775 core carrier genes · 600 conditions, reported at couple level
- 84 ACMG SF v3.3 actionable genes under separate consent
- 96 CPIC Level A pharmacogenomic pairs
- Runs-of-homozygosity for consanguinity-adjusted residual risk
For screening at scale, where cost is the binding constraint, and for anyone wanting the high-burden Indian content read directly.
Register interestGenavli Genome
Whole Genome Screen — genome tier
30× whole-genome sequencing with the full suite of specialised callers, including the paralogue-aware callers needed for genes ordinary analysis cannot resolve. Nothing has to be anticipated in advance to be found, and the stored genome can be reinterpreted as the evidence base grows.
- 1,141 carrier genes · 947 conditions, plus novel variants
- CYP21A2, GBA1, SMN1 and full CYP2D6 without add-on assays
- Structural variants, exon-level copy number, mitochondrial genome, repeat expansions
- Sold as a family ladder: Couple → Newborn → lifetime genome
For consanguineous couples, unexplained family history, and anyone who wants a genome that can be re-read for life.
Register interestEvery figure, and how it is counted
Screening panels are often advertised by a single large number with no stated definition. Those numbers are not comparable between providers, because the counting rule changes the answer by orders of magnitude. Genavli publishes the counting rule beside every figure, here and in every report.
Ask three questions. Is the condition count deduplicated, so one gene with four disease labels counts once? What evidence standard admits a gene to the panel? And are conditions fewer than genes? Several genes commonly cause the same condition, so a panel reporting more conditions than genes is almost certainly counting something else.
Detection status per variant class
Where a class is observed, imputed, covered by a bundled assay or not assessed is stated in every report.
| What is screened | Screen | Genome |
|---|---|---|
| Reproductive carrier screening | 775 core genes · 600 conditions | 1,141 genes · 947 conditions |
| Rare pathogenic carrier variants | Observed | Observed |
| Novel / previously unreported variants | Not assessed | Observed |
| Ancestry, traits, polygenic predisposition | Imputed | Observed |
| Spinal muscular atrophy (SMN1) | Bundled assay | Paralogue-aware caller |
| α- and β-thalassaemia | Bundled assay | Sequencing + targeted caller |
| Fragile X (FMR1 CGG repeat) | Bundled assay | Bundled assay |
| CYP2D6 full diplotype | Partial | Full, incl. deletions, duplications, hybrids |
| Structural variants, inversions, translocations | Not assessed | Observed |
| Reanalysis without a new sample | Limited to captured content | Full genome reinterpretable |
Three steps, clinician to counselling
- 01Referral and consent
A clinician orders the test, or a direct request is routed through a Genavli-affiliated physician. Consent for actionable findings is taken separately from carrier screening.
- 02Sample and laboratory
Blood or saliva, collected at the clinic or at home, sequenced and confirmed by our NABL-accredited partner laboratory. Samples never leave India.
- 03Interpretation, report and counselling
Classification against the Indian knowledgebase, a couple-level carrier report with individual actionable findings and pharmacogenomic guidance, and a genetic counselling session to walk through it.
Scope and regulatory position
- Screening tests, not diagnostic tests. A negative result reduces but does not eliminate risk; residual risk is stated per condition.
- Pre-conception and postnatal use only. No prenatal diagnosis, no embryo testing, no pre-implantation testing; fetal sex is never determined.
- No polygenic risk scores on clinical reports. Scores derived from European cohorts do not transfer reliably; they stay in the research-grade wellness report.
- Data handling. Genomic data of Indian residents is processed and stored within India under the DPDP Act, 2023; community and ancestry information is never printed on a clinical report or made group-queryable.
Every report carries per-section limitation statements naming what was not assessed and how it can be covered. No screening test detects everything; a report implying otherwise is the more dangerous product.
Genavli Interpret — interpretation as a service
The same engine that reads every Genavli test is available to laboratories as a multi-tenant platform: upload a VCF and phenotype terms, receive a prioritised, classified, director-signed report under your own branding. Reanalysis of previously negative exomes, hard-gene supplements on existing genomes, and a transparent detection matrix on every report.
Screening that says what it looked at.
Clinician and laboratory enquiries are welcome now; tests become orderable when analytical validation completes.