Frequently Asked Questions

Geneformation is a research tool designed to help families, clinicians, and researchers quickly gather and organize publicly available information about specific genes and genetic variants. You provide a gene name and variant, and we generate a structured, easy-to-read report by reviewing and organizing publicly available information from scientific literature and biomedical databases.

To generate a report, you need the name of the gene (e.g., SCN2A) from your genetic test results. You can also include the specific variant (e.g., c.5644C>T or p.Arg1882Leu) if available. When a variant is provided, the report includes variant-specific analysis, functional evidence, and classification details in addition to the gene-level research.

A report covers one human gene at a time, identified by its official HGNC symbol (for example SCN2A or MECP2). If more than one gene is relevant to your case, that means a separate report for each.

Adding a variant is optional but recommended. Geneformation supports small sequence changes written in standard HGVS notation:

• Substitutions, such as c.5644C>T or p.Arg1882Leu.
• Small deletions, duplications and insertions inside the gene, such as c.123del, c.955dup or c.123_125delinsAGT.
• Informal shorthand, such as R1882L or R168X.

The cDNA (c.) form is the most reliable and is what the report is built around.

A note on the word "deletion": small deletions and duplications inside a single gene, written in the notation above, are supported. What isn't supported is a chromosomal microdeletion or microduplication — one that removes or copies a stretch of a chromosome spanning many genes, is usually found by chromosomal microarray or karyotype testing, and is described in words or coordinates rather than in c. notation.

Geneformation does not currently support chromosomal or structural findings of that kind, including:

• Chromosomal microdeletions and microduplications, such as a 22q11.2 deletion.
• Balanced and unbalanced translocations, inversions, and ring chromosomes.
• Whole extra or missing chromosomes, such as trisomies.
• Copy-number results from a chromosomal microarray, and karyotype notation such as 46,XY,t(9;15)(q34;q21).
• Changes described as removing whole exons or the entire gene.
• Mitochondrial (m.) variants and raw genomic (g.) coordinates — these need a different kind of analysis than the gene-and-protein-centred one these reports are built on.

If your result is one of these, please get in touch before ordering. Tell us what your test report says and we'll look at it and reply honestly about whether Geneformation can help with your case.

Our system reviews publicly available scientific literature and biomedical databases to identify findings relevant to your specific gene and variant. Every piece of information in your report is cited with a link to the original source, so you can verify the information yourself.

When you receive a genetic diagnosis, the hardest part is often not finding information. It is knowing what to look for in the first place.

A chatbot answers the question you think to ask. Geneformation works through the same full set of questions for every gene, so nothing gets missed because you did not know it existed.

• You do not need to know what to ask. The report covers the gene and what has been published about it, the treatment and research landscape, who is working in the field, where families affected by the condition can find support, and questions worth raising at your next appointment.
• It points you to people, not just information. We identify clinicians and researchers who have published work on your gene, with links to their labs and public profiles where those are available, so you can see who is active in this area and where to find them.
• It shows how far each approach has got. Treatments and studies are presented with the stage they have reached, from early laboratory work through clinical trials to approved therapies. It also tells you when a study has been stopped, so you are not left following something that has already ended.
• It is written for everyone who needs to read it. There is a summary in plain language for the family, a clinical summary written for professionals, and the full referenced detail underneath for anyone who wants to go deeper.

Everything is built from published sources looked up for your gene, with links back to them, so you or your clinician can check anything yourself.

The result is a report you can keep, share and act on, rather than a conversation you have to know how to steer.

No. Geneformation provides educational research summaries only. We are not a medical provider, and our reports are not a substitute for professional medical advice, diagnosis, or treatment. You should always discuss the information in your report with a qualified healthcare provider or genetic counselor.

You will receive a comprehensive report covering multiple dedicated sections, accessible through your online report dashboard and as a downloadable PDF. Sections include:

• A plain-language family summary explaining the gene, its function, and what changes in it can mean.
• A technical summary for clinicians.
• A gene overview and in-depth gene summary with cited research.
• Variant-specific analysis with classification and functional evidence (when a variant is provided).
• Published experimental models relevant to the gene.
• Potential treatment approaches, clinical trials, and therapeutic avenues.
• Clinicians and researchers with published work on the gene.
• Patient advocacy organizations and support communities.
• Potential next steps to discuss with your care team.

Claims in the report are cited with links to the sources they draw on.

Yes. Once your report is generated, you can view it in your online report dashboard or download a professionally formatted PDF to take to your medical appointments.

Your report remains accessible through your account as long as the platform is available. You can access it at any time to view or download it again.

Our standard report is available for a one-time fee. Please visit our Pricing page for current rates.

Please double-check the gene name and variant before submitting your order. If you realize you've entered incorrect information after generating a report, contact our support team at [email protected] and we'll do our best to help.

We accept all major credit and debit cards (Visa, Mastercard, American Express). All payments are processed securely through our payment partner.

Your bank or credit card statement may show a charge from our payment processing partner rather than Geneformation directly. This is normal and expected for online transactions.

Prices shown on our website exclude applicable sales tax or VAT. The exact amount will be calculated and displayed at checkout based on your location.

If you experience a technical issue with your report, our first priority is to resolve it and regenerate your report at no additional cost. A refund will only be offered if we are unable to deliver a working report. Please see our Refund Policy for full details, or contact us for assistance.