Rare disease and undiagnosed cases — WES & WGS on inferagen
Whole exome and whole genome interpretation with phenotype-driven variant prioritization. Built for India's growing pediatric rare-disease load.
Clinical context
India has the largest absolute burden of rare disease patients in the world — an estimated 70 million. The diagnostic odyssey averages 7+ years. inferagen cuts the bioinformatics step from weeks to hours. We integrate HPO terms, run trio analysis, and surface the top candidate variants ranked by ACMG classification, OMIM phenotype match, and gnomAD/Indian frequency.
What we deliver
On inferagen.
- Whole Exome Sequencing (WES) — singleton and trio
- Whole Genome Sequencing (WGS) — including structural variant detection
- HPO-driven phenotype matching (Exomiser, LIRICAL integration)
- CNV detection from short-read data
- Mitochondrial variant calling
- Re-analysis on demand as new evidence emerges in ClinVar
Sample report
See exactly what your clinician will receive.
An anonymized PDF for this exact test type — patient summary, clinician summary, and ACMG detail. PII removed.
Download sample reportPricing
Credits per sample.
800–2,500 credits per sample (~₹16,000 – ₹50,000).
See full pricing & credit consumption →Design-partner programme
First design partners running this in beta — talk to us to be next.
We're onboarding a small group of labs for this test type. Design partners get free credits, white-glove onboarding, and direct input into our roadmap.
Apply to be a design partner →