Outcomes
25%
Diagnostic yield for male infertility genetic diagnosis
4
Detects SNV, CNV, Yq microdeletion, and gonosomal aneuploidy
3
Days from library preparation to result
1
Only kind of test available in India
Male infertility has a notable genetic component, including Klinefelter syndrome (47, XXY), Y chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a genetic cause, whilst remaining 60-70% remain without a clear diagnosis. The current genetic test paradigm involves use of only karyotyping and Y chromosome microdeletion test, which limits the scope of genetic testing.
2 Big Takeaways
Improvement in diagnosis
Our cutting-edge genomic solution utilises single molecule molecular inversion probe (smMIP) based target capture coupled with state-of-the-art bioinformatics pipeline, which can detect all 4 classes of genetic variants that can lead to male infertility- SNV, CNV, Yq microdeletion, and gonosomal aneuploidy.
Our assay targets 39 genes which explains 8 most common forms of male infertility in India. The assay covers Yq region and genomic co-ordinates recommended by the EMQN/ EAA guidelines for accurate Y chromosome microdeletion testing.
With targeting 39 genes, testing of our assay across 120 infertile male samples showed a yield of 25%, a singificant improvement compared to the current paradigm! (Sheth et al. Manuscript in preparation)
Single test with multiple facets
Current paradigm relies on iterative and rigid genetic test systems that required multiple steps, thus prolonging diagnosis and becoming expensive for the patient.
Our cutting-edge solution brings together the ability to peer SNVs, CNVs, Yq microdeletions and gonosomal aneuploidy in a single test.
To help make the entire assay feel seamless, we created a suite of modular components for sequencing library preparation, sequencing and post-sequencing computational analysis. Having a consistent, flexible system helped reduce laboratory capex, over-reliance on manual interpretation and hands-on time in the lab.
This in turn helped create a high-throughput and cost effective assay with a diagnostic yield of 25% and turnaround time of 3 days from library preparation to reporting.
Figure showing the ability of the assay to detect Klinefelter syndrome.
Figure showing the ability of the assay to detect AZFb+c microdeletion in the Yq region.
After launch
FRIGE Institute of Human Genetics
Our assay powers male infertility genetic diagnosis for patient samples that comes from across India.