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Newborn Rare Disease Screening
Newborn Rare Disease Screening
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1. Abstract
Genetic diseases are caused by changes in an individual’s DNA, often inherited from parents, that can significantly affect health and well-being. Genetic testing can help identify these mutations, providing valuable information on an individual's risk of developing certain diseases or passing them on to their children.
2. Background
Our genes hold the instructions for how our bodies grow and function, but sometimes, errors in the genetic code can lead to diseases. These errors, or mutations, can be inherited from one or both parents, increasing the risk of developing certain genetic disorders. By identifying these mutations early through genetic testing, individuals can take preventive actions or make informed decisions about their health and family planning.
Genetic diseases range from common conditions, such as cystic fibrosis or sickle cell anemia, to rarer disorders like Huntington’s disease. Understanding your genetic risk can empower you to take control of your health and explore available treatment options.
3. Technology Overview
· SNP Analysis: Single Nucleotide Polymorphisms (SNPs) are small genetic variations that can indicate an increased risk of genetic diseases. By analyzing SNPs, we can identify whether you carry mutations linked to conditions like cystic fibrosis, hemophilia, or Tay-Sachs disease.
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.