Know what your genes mean for you and your family.
Know your risks, how your medicines will work for you, and what you could pass on to your children — interpreted against Indian population data and ordered through your doctor.
Download the brochure (PDF):For familiesFor doctors
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.
- Every test is ordered through a doctor
- A blood sample
- Read against Indian population data
- A report that says what it did and did not look at
- Data stays in India
- Compare the tests in detail →
Which test is right for you?
Both partners take the same test for a joint report on what you could pass on to a child.
Your baby's doctor can order screening for treatable conditions that begin in infancy or childhood.
Genavli Screen or the Wellness Genome: your risks, your medicines and what you carry.
Your doctor orders the Diagnostic Genome, read against your clinical features.
Same knowledgebase. Three ways to read it.
Every test is ordered through a doctor — see How it works.
Genavli Screen
For a healthy person: the clinical genes read at high depth, at lower cost than a whole genome.
- 775 core carrier genes · 600 conditions, reported per person
- Medically actionable findings (84 genes) and pharmacogenomics (96 gene–drug pairs)
- Ancestry and traits, imputed from the low-pass data
- Spinal muscular atrophy, thalassaemia and fragile X by bundled assays
Genavli Wellness Genome
For a healthy person, no symptoms needed: the whole genome, re-readable for life.
- 1,141 carrier genes · 947 conditions, plus novel variants
- Actionable findings and pharmacogenomics, including full CYP2D6
- Ancestry and traits observed, not imputed
- Polygenic scores, research-grade and labelled, calibrated against an Indian reference
Genavli Diagnostic Genome
For a patient with a suspected rare or genetic disorder.
- Every variant ranked against the patient's clinical features (HPO terms)
- Structural variants, copy number, repeat expansions and hard genes such as SMN1 and CYP21A2
- Actionable findings unless the patient opts out
- Optional carrier screening (1,141 genes · 947 conditions) and pharmacogenomics
For couples planning a family
Recessive conditions such as thalassaemia are common in many communities in India. The question a couple asks is about their future child, not about each partner alone, so Genavli Screen and the Wellness Genome can be taken together by both partners for a joint report. It is an option on those two tests, not a separate product.
- Both partners take the same test: Genavli Screen for both, or the Wellness Genome for both, never mixed.
- Each partner has their own doctor's prescription, blood sample and consent, and agrees to share carrier results for the joint report: conditions where both carry a disease-causing variant in the same recessive gene, and X-linked conditions the female partner carries, with the chance for each pregnancy and the residual risk after a negative result.
- Pre-conception only. No prenatal testing.
For newborns
Some conditions begin in infancy or childhood and can be treated or managed if they are found early. Newborn screening reads a baby's DNA for those conditions, ordered by the baby's doctor, with a report of its own.
- Ordered by the baby's doctor, a paediatrician or neonatologist, with the parents' consent, from a blood sample.
- Looks for conditions that begin in infancy or childhood and can be treated or managed early, from a newborn-specific gene and variant list with its own report; conditions that begin only in adulthood are not reported for a child.
- Done on the screening backbone (a low-pass genome with high-depth enrichment of the clinical genes) or on the whole genome (30×).
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.
What your report covers
A report is organised around the next clinical step, not a gene list. Each area says what it covers, what each test can do for it, and where a finding goes next. The report modules behind them are on the comparison page.
Could this person pass on a serious recessive or X-linked condition?
Per-person carrier status across the autosomal-recessive and X-linked panel, with residual risk after a negative result and consanguinity measured from the genome, and a joint report when both partners of a couple are tested on the same test.
- β- and α-thalassaemia
- Spinal muscular atrophy
- Cystic fibrosis
- Fragile X
- Duchenne muscular dystrophy
- ACMG Tier-3 carrier list (113 genes) plus the India-enriched core
In India: Thalassaemia carrier frequency reaches 3–17 % in several Indian communities; consanguineous marriage raises recessive risk in many regions.
Is there an inherited cardiac or vascular condition, or an elevated polygenic risk?
Monogenic cardiomyopathies, arrhythmias, familial hypercholesterolaemia and aortopathies from the actionable gene set, with polygenic predisposition to coronary disease and atrial fibrillation on the Wellness Genome's research-grade report.
- Familial hypercholesterolaemia (LDLR, APOB, PCSK9)
- Hypertrophic and dilated cardiomyopathy
- Long QT, Brugada, CPVT
- Marfan, Loeys-Dietz, familial aortic dissection
- Coronary artery disease and atrial fibrillation (polygenic, research-grade)
In India: South Asians develop coronary disease a decade earlier on average; the MYBPC3 founder deletion sits near 3 % allele frequency in Indian datasets.
Is there a monogenic form of diabetes or kidney disease, and what is the polygenic background?
Monogenic diabetes, inherited kidney disease and the metabolic genes of the actionable set, with polygenic predisposition to type 2 diabetes, obesity and chronic kidney disease on the Wellness Genome's research-grade report.
- MODY (HNF1A, HNF4A, GCK)
- Autosomal dominant polycystic kidney disease
- Wilson disease
- Hereditary haemochromatosis
- Type 2 diabetes, BMI and chronic kidney disease (polygenic, research-grade)
In India: Type 2 diabetes and chronic kidney disease start earlier and at lower body weight in South Asians than in European populations.
Is there a hereditary cancer syndrome in the family?
The hereditary cancer genes of the ACMG actionable set, reported at individual level under separate consent, with the polygenic contribution to common cancers on the Wellness Genome's research-grade report.
- Hereditary breast and ovarian cancer (BRCA1, BRCA2, PALB2)
- Lynch syndrome
- Familial adenomatous polyposis
- Li-Fraumeni syndrome
- Multiple endocrine neoplasia
- Breast, colorectal and prostate cancer (polygenic, research-grade)
Which common drugs need a different dose or a different choice for this person?
Pharmacogenomic diplotypes for the CPIC Level A gene–drug pairs, with the phenotype and the prescribing guidance that follows from it.
- Clopidogrel, warfarin, statins
- Codeine, tramadol and other CYP2D6 substrates
- Thiopurines (TPMT, NUDT15)
- Fluoropyrimidines (DPYD)
- HLA-linked hypersensitivity (carbamazepine, allopurinol, abacavir)
In India: NUDT15 variants causing thiopurine toxicity are far more common in South and East Asians than in Europeans.
Is there an inherited neurological condition, including a repeat expansion?
Repeat-expansion disorders read directly from the genome and checked against the STRchive catalogue, with the neuromuscular and neurodegenerative genes of the panel. Expansions longer than a read are reported as unconfirmed until orthogonally tested.
- Huntington disease
- Friedreich ataxia
- Spinocerebellar ataxias
- Myotonic dystrophy
- Fragile X and FXTAS
- Duchenne and Becker muscular dystrophy
Where does this genome come from, and what common traits does it carry?
Ancestry composition against Indian reference populations and research-grade traits with Indian reference percentiles. Separate from the clinical report; never printed on it.
- Ancestry composition
- Lactose and alcohol metabolism
- Caffeine, bitter taste and other common traits
- Polygenic scores calibrated against an Indian reference (Wellness Genome only, research-grade)
Three steps, prescription to results
- 01Your doctor orders
Every test is ordered by a doctor. For Genavli Screen and the Wellness Genome you can register yourself with your doctor's written prescription and their name, medical registration number, address, contact number and email; Genavli staff check it and confirm it with your doctor before the order is accepted. The Diagnostic Genome is ordered by your doctor or laboratory.
- 02A blood sample
Every test takes a blood sample, drawn as your doctor or laboratory arranges: blood gives a more reliable DNA sample than swabs or saliva. Our NABL-accredited partner laboratory sequences and confirms; samples never leave India. Existing VCF, BAM, CRAM or FASTQ data can be brought instead.
- 03Results to you and your doctor
Your doctor receives the results too, and you are responsible for discussing them with your doctor. A genetic counselling session is included at no extra charge for a medically actionable finding, a carrier result relevant to having children or a positive Diagnostic Genome result; for any other result it can be booked on demand for an additional fee.
The full scope and regulatory position, including what the tests do not do, is on the comparison page.
- NABL-accredited, ISO 15189 partner laboratory
- ACMG/AMP with ClinGen specifications
- Data stays in India (DPDP Act, 2023)
- Analytical validation published
- Counting rules published
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, BAM, CRAM or FASTQ set 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.
Enquiries from individuals, doctors and laboratories are welcome now; tests become orderable, always with a doctor's prescription or order, when analytical validation completes.