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EBOGENES Newborn Rare Disease Genetic Screening Kit
EBOGENES Newborn Rare Disease Genetic Screening Kit
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A saliva or cheek-swab genetic screening test for selected inherited (monogenic) rare diseases in newborns. Panel options to be provided by the laboratory.
What it tests
Early-onset and clinically actionable rare genetic disorders, including inherited metabolic diseases (e.g., PKU, Pompe disease), primary immunodeficiencies (e.g., SCID), spinal muscular atrophy (SMA), cystic fibrosis (CF), and genetic hearing loss.
How it works
Order online → saliva collection kit is shipped to you → collect at home and send it back with the prepaid FedEx return envelope → laboratory analysis → report delivered as a PDF in your EBOGENES customer portal or by email.
What's in the box
Saliva / mouth-swab collection kit, instructions, prepaid FedEx return envelope
At a glance
- Sample: Saliva or mouth swab
- Collection: Home
- Report time: Available 4–6 weeks after the laboratory receives your sample.
- Test type: Screening
- Who it is for: Newborns (ordered by parents)
Storage & handling
Unused kit: store at room temperature (15–25 °C) in a dry place, away from direct sunlight. Do not freeze. Use before the expiry date printed on the kit. After collection: keep the sealed tube at room temperature and ship it within 3 days
Laboratory & report
Laboratory analysis: an accredited partner laboratory. Report prepared by the EBOGENES science team and reviewed by a licensed physician.
FAQ
What sample do I provide and can I do it at home? A small saliva sample or mouth swab, collected at home with the kit. Collection is non-invasive and takes only a few minutes.
How long until I get my report? Available 4–6 weeks after the laboratory receives your sample.
Is this a diagnosis? No. It is a screening test, not a diagnosis. It does not detect all rare diseases, and a negative result does not mean your baby has no risk. Some findings may be uncertain and require clinical confirmation. Please discuss results with your healthcare provider and a genetic counsellor.
Can this test diagnose a disease? No. It is a screening test, not a diagnosis. It identifies genetic variants associated with selected rare diseases, but it cannot confirm whether your baby has a condition. A positive result must be confirmed by clinical testing. Always discuss with your healthcare provider.
What happens to my baby's data? Your baby's genetic data and report are stored in Canada. Samples are destroyed within 30 days after your report is issued, unless you consent to longer storage. You can request deletion at any time by emailing info@ebovir.ca or through your customer portal; we complete requests within 30 days, except for records we must keep by law. We never use your sample or data for research.
This is a screening test, not a diagnosis. It does not detect all rare diseases, and a negative result does not mean your baby has no risk. Some findings may be uncertain and require clinical confirmation. Results should be discussed with your healthcare provider and a genetic counsellor. Screening / information test – not a diagnosis. Discuss results with your healthcare provider and a genetic counsellor
Data stored in Canada (AWS ca-central-1).
All 6.4 billion letters of your DNA — read, stored, and yours to keep.
Most consumer DNA tests sample a few hundred thousand positions. Whole genome sequencing reads the entire thing at 30× depth, and hands you the files at the end. No subscription required to keep them.
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30×
average
coverage depth -
6.4B
base pairs
sequenced -
FASTQ
BAM & VCF
files included
How it runs
Kit arrives
Day 0，Saliva collection takes about five minutes. Avoid eating, drinking, or brushing your teeth for thirty minutes beforehand — that's the only preparation required.
Sample ships back
Day 1–2， Prepaid return envelope is included. Saliva samples are stable at room temperature, so there's no cold chain to manage on your end.
DNA extraction and quality check
Week 1，We extract and assess DNA quality before sequencing. If a sample fails QC, we send a replacement kit at no charge rather than sequencing something that won't yield reliable calls.
Sequencing and analysis
Week 2–6，Sequencing, alignment to GRCh38, and variant calling. This is the longest stage and we'd rather state it accurately than quote a number we miss.
Reports and files released
Week 2–6， Your reports and all three file formats become available together. You'll get an email the moment they're ready.
No. Ebogenes whole genome sequencing is offered for research and personal informational use. It is not a diagnostic test, it is not a substitute for clinical genetic testing, and it should not be used to make medical decisions on its own. If a finding concerns you, bring it to a physician or a certified genetic counsellor — that's what the files are for.
Each position in your genome is read approximately thirty times on average. Sequencing makes errors, so reading a position once tells you little; reading it thirty times lets a variant call rest on consensus. 30× is the widely used standard for reliable variant calling — below it, calls get noticeably less dependable.
Our reports flag findings for follow-up; they do not diagnose. A variant of uncertain significance is a flag, not a finding — many are later reclassified as benign. We'd rather tell you plainly that something needs a professional look than dress up an uncertain result as an answer.
Sequencing and storage happen at our Laval, Québec facility. Your data stays in Canada and is subject to Canadian privacy law. We do not sell your genetic data, and we do not share it with insurers, employers, or research programmes without your explicit, separate consent. You can request deletion at any time.
No. Your reports and all three file formats remain accessible without any ongoing payment. Download them and store your own copy if you prefer — that's the point of giving you FASTQ.