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新生儿罕见疾病筛查
新生儿罕见疾病筛查
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1.摘要
遗传性疾病是由个体DNA变异引起的，这些变异通常遗传自父母，会严重影响个人的健康和福祉。基因检测可以帮助识别这些变异，提供宝贵的信息，帮助判断个体罹患某些疾病或将这些疾病遗传给子女的风险。
2.背景
我们的基因掌握着身体生长和运作的指令，但有时，遗传密码的错误会导致疾病。这些错误或突变可以从父母一方或双方遗传，从而增加患上某些遗传疾病的风险。通过基因检测及早发现这些突变，个人可以采取预防措施，或就自身健康和生育计划做出明智的决定。
遗传性疾病种类繁多，从囊性纤维化或镰状细胞性贫血等常见疾病，到亨廷顿氏病等罕见疾病，不一而足。了解您的遗传风险可以帮助您掌控自己的健康，并探索可用的治疗方案。
3.技术概述
· SNP分析：单核苷酸多态性 (SNP) 是一种微小的遗传变异，可能预示着罹患遗传疾病的风险增加。通过分析 SNP，我们可以识别您是否携带与囊性纤维化、血友病或泰-萨克斯病等疾病相关的突变。
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.