About Our Genetic Testing Services
Our services are currently centered in Japan, and the following content is intended for the Japanese market.
1. Panel Testing
Panel testing covering a broad range of hereditary rare diseases and hereditary tumors, including the 338 disease categories officially designated as intractable diseases under Japan’s national healthcare system. Both insurance-covered (in Japan) and self-pay options are available.
2. Single Gene Testing
Single-gene testing for purposes such as carrier testing among family members. This service is non-insured. Please note that we do not offer Sanger sequencing.
3. Screening Tests
Comprehensive screening for a wide range of conditions, including muscular disorders and lysosomal storage diseases (LSDs).
4. Exome Sequencing (WES)
Exome analysis for research institutions. Target FASTQ size of 5–6 GB, with a minimum coverage guarantee of 95% at >20x depth. Includes variant calling. Trio analysis is provided at no additional cost.
Turnaround time from sample receipt to report delivery is currently 1–2 months; we are working toward a target of within 3 weeks. Registered Clinical Testing Laboratory: Chiho No. 28.
Our Strengths
At Generize, our motto is “Fast, Simple, and Accurate.” We provide an integrated service — from low-burden sample collection using buccal swabs, to advanced analytical technology, to post-testing follow-up.
1. Simple Collection and Shipping
- Collection: Buccal (oral) swab collection means no blood draw is required. Samples can be collected with minimal burden using a simple swab, even from newborns, infants, and elderly patients. Collection is also possible for patients with leukopenia. After collection, samples are simply mailed via Letter Pack to the nearest mailbox.
- Preservation solution: The preservation solution (iSWAB) has an inactivating effect and remains stable at room temperature for up to 2 years. No cold-chain shipping is required.
2. Advanced Analytical Technology
Building on highly accurate variant identification, we use our proprietary pipeline to address difficult-to-analyze regions, including population-specific founder variants, cis/trans phasing of compound heterozygous variants in AR diseases, and genes/pseudogenes with regions of high homology.
- MNV (Multiple Nucleotide Variant): We appropriately detect and evaluate MNVs — multiple adjacent nucleotide changes occurring simultaneously — to avoid missed findings.
- CNV (Copy Number Variant): CNVs are reported from the same sample and analysis as SNVs/indels, with no additional sample required. Reliability is ensured through a double-check process combining our analysis pipeline with expert visual review.
- Deep Intron Variants: We also cover deep intronic splicing abnormalities, which are not detected by conventional exon-centered analysis.
- Region-Specific Panel Design: We design our panels around the disease prevalence and genetic background of each region we serve. For Southeast Asia, for example, we offer dedicated panels covering conditions such as thalassemia and G6PD deficiency — delivered at a lower cost than existing international alternatives.
3. Post-Analysis Support
- Expert Commentary and Case Consultation: For each detected variant, our specialists provide clear commentary on its pathogenicity and relevant literature, ready for direct clinical use. For cases where interpretation is unclear, we also offer individual case consultations.
- Retesting and Additional Analysis: If a diagnosis is not reached on the first test, we offer low-cost retesting or additional testing using related-disease panels. Sample reuse is often possible, minimizing additional burden on the patient.
- Data Return: With patient consent, we provide FASTQ and BAM data. A fee applies for secondary use, such as second opinions or additional analysis at other institutions.