FAQ (Frequently Asked Questions)
Click a category below to jump to the relevant section.
- Sample Collection and Shipping
- Test Requisition Forms
- Pricing and Ordering
- Accuracy and Analytical Technology
- Results and After-Sales Support
- How We Differ from Other Providers
Sample Collection and Shipping
Q. Is a blood draw required?
A. The standard method is buccal (oral) swab collection. We use Mawi’s iSWAB as the collection and preservation kit. Samples can be collected with a simple swab, making it safe even for newborns and infants.
Q. Where can I obtain an iSWAB kit?
A. If you indicate this on the application form when ordering a test, we will mail one to you.
Q. How should I ship a buccal swab (iSWAB) sample?
A. Please pack the sample with cushioning material and a plastic bag, then drop it in a mailbox using a Letter Pack Light. The cushioning material, plastic bag, and Letter Pack Light are all included when we send you the iSWAB kit.
Q. What is the shipping address for samples?
A. 307 Chiba University Inohana Innovation Plaza, 1-8-15 Inohana, Chuo-ku, Chiba City, Chiba 260-0856, Japan — Attn: Generize Co., Ltd.
Test Requisition Forms
Q. Where can I get a requisition form?
A. We issue requisition forms electronically (via Google Sheets). Please contact us via this form to request one. Two types are available: one for clinical testing and one for research use, such as exome sequencing.
Q. The requisition form won’t open in my browser.
A. This can happen when multiple browser windows are open. If so, right-click your browser icon, open a private/incognito window, and enter the URL there.
Pricing and Ordering
Q. How much does testing cost?
A. Pricing depends on the type of test. Please let us know the details of your case, and we will provide a quote.
Accuracy and Analytical Technology
Q. Can I trust the accuracy of the testing?
A. Yes. Highly accurate variant identification through NGS is a core requirement we guarantee, backed by strict quality control throughout our analysis pipeline.
Q. Do you support MNVs (Multiple Nucleotide Variants)?
A. Yes. Interpreting MNVs individually as separate SNVs can lead to misjudging pathogenicity, so we detect and evaluate them appropriately within our standard analysis to avoid missed findings.
Q. Do you support variants common in specific populations (founder variants)?
A. Yes. We evaluate population-specific founder variants as part of our standard analysis, including cases that are difficult to detect with short-read sequencing alone.
Q. If two variants are found in an AR (autosomal recessive) disease, can you tell whether they are in cis or trans configuration?
A. Where possible, we determine this and note it, along with our supporting rationale, in the report. Whether compound heterozygous variants are in cis (same allele) or trans (opposite alleles) is critical for confirming an AR disease diagnosis. Where determination isn’t possible, we state this clearly.
Q. Can you also detect CNVs (Copy Number Variants)?
A. Yes. Any suspicious findings are noted in the report. We ensure reliability through a double-check process combining advanced detection software with expert visual review.
Q. Are SNVs/indels and CNVs reported from the same test?
A. Yes. Both are reported from the same sample and analysis workflow — no additional sample is required for CNV detection.
Q. For which conditions should CNV analysis be considered?
A. CNV evaluation is especially important when point variants alone don’t explain the phenotype — for example, developmental delay, intellectual disability, autism spectrum disorder, myopathies, congenital anomalies, and neurological conditions.
Q. Do you support deep intron variants?
A. Yes. In addition to exonic regions, we also analyze deep intronic variants, covering cases missed by conventional exon-centered analysis.
Results and After-Sales Support
Q. How detailed are the comments in the report?
A. We aim to provide commentary detailed enough to be used directly in clinical practice, describing each variant’s pathogenicity and relevant literature clearly and thoroughly.
Q. What if I’m unsure how to interpret a variant?
A. If you remain uncertain after reading the report commentary, you can request an individual case consultation.
Q. If a diagnosis wasn’t reached on the first test, can I request retesting?
A. Yes, of course. We offer low-cost retesting with a related-disease panel. In many cases the sample can be reused, minimizing additional burden on the patient while broadening the scope of diagnosis.
Q. Can I receive the raw analysis data (FASTQ/BAM)?
A. Yes. With the patient’s consent, we provide FASTQ and BAM files. Please note that a fee applies for secondary use, such as second opinions or further analysis at other institutions.
How We Differ from Other Providers
Q. What sets you apart from other providers?
A. We combine highly accurate variant identification (including MNV detection, founder variant analysis, and cis/trans phasing) with clinically actionable commentary and consultation support, CNV detection, deep intron variant analysis, affordable retesting, FASTQ/BAM data provision, and simple buccal-swab mail-in collection — all in one service.
Contact Form
Please contact us using the form below.
We welcome inquiries from both healthcare institutions and prospective distributors.