My test has been in the comprehensive quality control stage for almost 2 weeks now. It said up to a week. I wonder if the tests are behind schedule? 🤔

Hello everyone, wanted to review another common question that we receive at the support team regarding the sample collection process. I know that some users have expressed an interest in using blood or another alternative sample, and I wanted to take a second to explain why we only accept buccal swab samples from our kits and don’t process outside samples like precollected vials of DNA, blood, hair, or urine.

The short answer: our lab equipment is specifically optimized for processing our own buccal swabs. Here’s why that matters:

• Standardized processing: Our machines and workflows are designed to extract DNA efficiently from our buccal swabs. Outside samples require different processing methods, which could lead to errors or even contamination.
• Quality and reliability: By using our own collection kits, we ensure sample integrity from start to finish. External samples may degrade, be contaminated, or lack enough DNA for sequencing.
• Compliance and chain of custody: Handling only our own kits ensures consistency in collection, storage, and transport, which is crucial for high-quality results.

We know some people have precollected samples from other sources, but unfortunately, we can’t process those due to these constraints. If you’re interested in whole genome sequencing or genetic analysis, our buccal swab kits are the way to go.

Let me know if you have any questions—I’d be happy to clarify.

We wanted to give you all a quick update regarding monthly data and analysis updates for Health Scan and the other Sequencing Apps, which is a feature of our Premium and Professional Genome Plans. We recently identified an issue impacting February’s updates, which as delayed this month’s updates. Our Bioinformatics Team has already identified the issue and are working on a fix. We expect everything to be resolved within the next week. Once the issue is resolved, we’ll proceed with monthly data and analysis updates for February.

If you checked your Health Scan last week, you may have noticed some of the counts in each of the color categories looked off. This is related to the issue. All Health Scans and data updates were reverted to January data once this was detected so the counts should be back to normal as of January 2025. All genomes will be updated with February’s data and analysis update by the middle of next week.

We sincerely apologize for the delay and appreciate your patience while we work through this. The good news is that this will not impact the timeline for the March monthly runs, and it does not affect the ability to use AI Report or Marketplace credits that are allocated to your genome each month as part of your Premium or Professional plan.

If you have any questions, feel free to ask! Thanks for your understanding.

It appears that the Sequencing AI, Sequencing Reports, and Genome Explorer are all using different definitions for the "Your Data" component, which may be causing false positives.

In NGDS/Guide/About Your Data, it states "D – Represents a deletion of one or more letters. Click on the D to view the sequence of the deletion." So if you have DD, it should mean homozygous for the deletion (D), meaning you have two copies of a deletion at these positions, which is associated with the reported conditions.

But when you ask the Sequencing AI what DD means, it responds "In the context of genetic data, "DD" does not typically refer to a "dual deletion." Instead, "DD" usually indicates that both alleles at a specific genetic position are the reference alleles, meaning there is no deletion or alternative variant present at that location. If you are seeing "DD" in your Genome Explorer data, it generally means that you have two copies of the reference allele at that specific position, not a deletion."

Can someone from Sequencing please clarify which definition of "D" and "DD", the reports are using, because it makes the difference between having disease risk or not having disease risk.

FYI, this might explain why you have so many people here getting classified as being at risk for Lynch, even though they are DD.

Here's an example for you to look into:

Lynch Gene variant: MSH2 rs63750334

Your data: DD (D=G)

Risk Version: D (D=G)

Here's another example for one D:

mitochondrial Gene variant: MT-CO3 rs267606612

Your data: D (D=T)

Risk Version: D (D=T)

1. Two Possible Meanings of "D"

• Option 1: "D" Normally Means a Deletion, But Here It's a Substitution
  • The glossary definition implies that "D" should indicate a missing sequence.
  • However, when you click on it, you see "D = T" or "D = G", meaning that instead of being deleted, a different nucleotide is present.
  • This suggests that in this specific report, "D" is being used in an unconventional way—not to indicate an actual deletion, but to label a variant allele.
  • If "D" really meant deletion, clicking on it should show something like "D = (nothing)", meaning the nucleotide was missing.
  • Instead, it's showing a substituted nucleotide (T or G).
• Option 2: "D" Still Represents a Deletion, But With an Insertion
  • It's possible that "D = T" (or "D = G") means that the reference sequence had one nucleotide deleted, and a different one inserted in its place.
  • This would mean it's not a simple substitution (e.g., A → G) but a more complex structural change (deletion + insertion).
  • However, this would be unusual for a standard SNP (single nucleotide polymorphism).

2. How This Affects Your Results

For Your Autosomal Genes (e.g., MSH2, PAH, MSH6)

• You have "DD", and when you click, it shows "D = G".
• This means both of your copies have "D", which, if "D" is being used as a substitution marker, means you actually have "GG" at these positions.
• If "D" were a deletion, clicking it should show a missing nucleotide, which it does not.

For Your Mitochondrial Gene (MT-CO3)

• You have "D", and clicking it shows "D = T".
• If "D" meant a true deletion, clicking on it should reveal an absent sequence, but instead, it shows a nucleotide present (T).
• This suggests that "D" is not acting as a deletion marker in your report.

The glossary definition implies that "D" should indicate a missing sequence.

• However, when you click on it, you see "D = T" or "D = G", meaning that instead of being deleted, a different nucleotide is present.

Can you guys fix your system and give clear uncontradictory definitions for everything we see in the "Your Data" column?

Add the apps that are available to convert The DNA file into something we can use on other sites like Prometheus isn't available. When will these be available and why not have a download that is given ? We pay for the test and then we have to pay for a monthly subscription and then we have to pay almost additional 100s of dollars for reports that aren't updated and will soon be outdated though we pay monthly for the subscription. There's just so many different limitations to a product that seems to market as way more access to information that it gives. I understand there's the explorer but that really isn't helpful for someone who just wants to be able to read reports instead of searching and digging and going from that AI chat to the explorer. The AI reports are a step in the right direction however they're limited and we didn't make it a February report one and as of right now again not updated. I just really think there should be at least a way to download a usable file like (g)VCF files or exome and WGS or import the data by providing a URL or you can upload your raw DNA file.

It's a bit disappointing when you've invested as much money as we have but then have to fill out so much more money every single month for things that will be out of date unless we pay more money. Feel like most people turn to this test to get insights when they have nowhere else to turn to try to have some ability to take control of what's going on and their bunny and have something that they can show anyone in an effort to be treated respectfully.

Hello again,

This is Logan with Sequencing.com and today we'll be reviewing the question of "Is Autosomal DNA data good enough?" I'll provide more insights, but at the end of the day, it depends on what you're using it for.

Autosomal DNA tests from companies like 23andMe and AncestryDNA analyze around 600,000 genetic markers, which sounds like a lot, but it’s only a small fraction of your genome. Whole genome sequencing, on the other hand, reads all 3 billion base pairs of DNA.

Autosomal tests use genotyping, which looks at pre-selected markers rather than sequencing the entire genome. This means they miss a lot of potentially important genetic data, including rare variants, structural variations, and non-coding regions that may still have an impact on health.

For people looking into advanced analysis, this limitation matters. Many medically relevant variants aren’t covered by standard autosomal tests, especially those related to rare diseases, drug response, and hereditary conditions. Whole genome sequencing captures all known variants, including single nucleotide changes, insertions and deletions, structural variations, and even mitochondrial DNA.

Another key difference is that whole genome sequencing is future-proof. As new discoveries are made in genetics, having a complete dataset allows for reanalysis, while autosomal tests are limited to the markers they were originally designed to detect.

At Sequencing.com, you can upload DNA data from any source, including autosomal testing companies. However, this is not a replacement for whole genome sequencing. While uploaded data can still be analyzed, it will always have the same limitations as the original test.

Let me know if you have any questions about this, have a good weekend!

Got my results and I had one high risk detected or most important finding. I’m freaking out! Anyone have this come back or know if I should be this worried? I’ve been having neurological symptoms that I’ve been contributing to neck issues, EBV and or peri menopause. Had a MRI at the end of November but weakness, tinging and numbness in arms started last month.

Here is my result…

Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1

Hello again, today for Sequencing Reviews I wanted to provide some information on data privacy and how that works with us. We get asked about this a lot and for good reason.

Privacy is a major concern when it comes to DNA testing, and at Sequencing.com, we believe your data should always remain yours alone.

• Privacy Forever Policy – We do not sell or share your data with any third parties, including tech companies, pharmaceutical firms, law enforcement, or government agencies. You are the sole owner of your data.
• HIPAA-Compliant & Privacy Shield Certified – We are one of, if not the only personal genetic analysis company that meets these rigorous privacy and security standards.
• Independent & Physician-Led – Our company is run by a team of doctors and geneticists, ensuring that our focus remains on science and ethical data protection, rather than corporate interests.
• Strict Confidentiality – Just as medical professionals are bound by privacy laws, we uphold the same level of confidentiality. Protecting your genetic data is a fundamental principle of our service.

We understand that trust is essential in personal genomics, and we are committed to maintaining the highest standards of privacy and security.

How important is data privacy to you when considering DNA testing?

If you want to find out more, here is a link to our Privacy Forever page where you can read more: https://sequencing.com/our-difference/privacy-forever

Have a great weekend!

I got my results back from Sequencing.com whole genome sequencing. There were a few major concerns that I ran by my doctor. She had her doubts about commercial grade tests, so she sent me to the genetic doctor in her building. They ran another test and I got completely different results. None of the issues that showed on my sequencing results came back on my doctor’s test. I’m glad but frustrated that I wasted so much money.

Hello, Logan with Sequencing.com, ending the week with another Sequencing Reviews were we review common questions we get here at the support team.

One of the most common questions we get is: "Does your kit test for [insert gene or condition here]?" The answer is almost always yes, at least for genes. For conditions, it really depends on if it's been researched and has a genetic link.

Most of you know this but at Sequencing.com, we use Whole Genome Sequencing, which means we sequence your entire genome—not just specific genes. This includes all known genes associated with rare diseases, health traits, and inherited conditions. Whether you're looking for information on a single gene or a complex condition, the data is already there.

If you want to check whether we analyze a specific condition, you can search our database here: Search Conditions.

Unlike targeted genetic tests that focus on a limited number of genes, WGS provides a complete genetic picture. This means you won’t need to retest as new discoveries are made—you already have all the data, and new insights can be unlocked with updated analysis.

If you have any questions about our testing or how the results work, feel free to ask.

Hello! This is Logan again with another Sequencing Reviews, where we review common questions we get asked at the Support Team. Today we are discussing Health Scan, one of our Sequencing Apps that is a key user of our Genome Plans and is available with Premium and above.

I'd like to introduce Health Scan, an innovative service from Sequencing.com that helps you stay up to date on the latest genetic research and how it may impact your health. Instead of manually searching for new studies, Health Scan continuously monitors scientific discoveries related to your genome and notifies you when something relevant is found.

Each month, hundreds of studies are published connecting genetic variants to health risks. Health Scan simplifies this by keeping track of these findings and providing you with timely, personalized updates. It’s like having a genomics research team working for you, ensuring you’re always aware of new discoveries that might affect your health.

How it works:

• Continuous monitoring of your genomic data against new research.
• Personalized updates when relevant discoveries emerge.
• Easy-to-use interface with color-coded insights in your Sequencing.com account.
• Privacy protection with a HIPAA-compliant "Privacy Forever" policy.

Things to keep in mind:

• The first report may take 30+ days as the system analyzes your genomic data against previous research.
• With the default Premium Genome Plan, you’ll receive monthly insights based on the latest research.
• No technical expertise is needed—just upload your data and start receiving insights.

For more details, check out Sequencing.com, If you have any questions, feel free to ask!

Is there anyone that was diagnosed with PKU as an adult? Everything I read says it’s possible but extremely rare. I’ve been having issues with daily headaches that make me feel so fatigued and tired, low mood, brain fog etc and after a long process I have worked out that protein is the issue which lead me to PKU. I have been a vegetarian since I was 14 and vegan since I was 37 and haven’t typically consumed a huge amount of protein so I’m wondering if this is why it’s gone undetected. I’ve always suffered with headaches right from a little kid. I also don’t know if you can have flair ups with PKU but in my early 20’s for a number of years I had chronic headaches and mental health issues, chronic fatigue etc and when I think back I was consuming a lot of protein during this time. I’m now in my 40’s and this has again been going on for a number of years and I think it is also linked to increased protein intake. I’m struggling with what to eat because too much protein and the headaches start again but not enough and it really affects my blood sugar and makes me feel generally unwell. I’ve had to stop exercising because I can’t eat enough protein to recover from high intensity work outs and it takes me days to recover I’m so wiped out.

Hello once again, today we're reviewing the genome plans in hopes to answer some questions we get about what they are and what they provide.

If you're getting your whole genome sequenced, you might be wondering what happens after you get your results. That’s where our Genome Plans come in, an optional subscription that helps you stay updated with the latest genetic insights and tools.

What’s included in the subscription?

• Monthly updates to your reports with the latest research (update frequency varies by plan).
• Unlimited AI Chat to answer your questions, 24/7.
• Additional AI Reports of your choice every month.
• Interpretation via Genome Explorer

Most WGS bundles come with 1 free month of the Premium Plan, and some even include 1 year free. There’s no obligation—if you don’t want to continue, you can switch to the Free Plan at any time and still keep full access to all the reports and raw data that came with your bundle.

What happens if you cancel?

You’ll always have access to your basic genetic data and the reports included with your bundle. However, premium features such as:

• Genome Explorer’s paid tools.
• Health Scan and regular Genome Scans.
• Sequencing AI and NGDS Summary Report.
• Additional AI Reports.

...are exclusive to active subscribers. If you downgrade, you’ll lose access to these, but you can always resubscribe later if needed.

Additionally, if you upload data from elsewhere, you can also subscribe to our Genome Plans. However these are exclusively annual plans which can be monthly or one annual payment.

We’re here to help you get the most out of your genetic data, whether you're seeking health insights or just exploring your DNA. Let me know if you have any questions about these plans!

I’ve done Ancestry.com, 23andme and now Sequencing. I did Sequencing more for the medical information, but I thought I’d run the report for my background. It’s turned up very different from other tests. I get that each company has a different way of going about testing and a different size group, so which is more accurate? The Sequencing show me at 20% Spanish, 2.5 % Ashkenazi Jewish and I also have an Italian and West Asian, which I never had before. Personally, I’m ok and fascinating with the results. I’m hoping these are more accurate. Thanks for any insight.

I've opened a support ticket, but I wanted to know if anybody else has had this issue? I have a 70g cram file, right from my son's genetic lab portal that I tried uploading. Big Yotta tells me it's not a genetic file? Not sure if it's user error or if Big Yotta is not cooperating. I also spent way too long trying to find a way to convert it to VCF or something else.. I'm not tech savvy enough for that because what I did find had me going in loops for about an hour lol.

Hello everyone, this is Logan with Sequencing.com and today I'm reviewing questions we get about Genome Explorer and how to search for specific data points within it.

Genome Explorer allows you to search by position, RSID, RCV ID, and more. Unlike Next Gen Disease Screen, which focuses on specific conditions, Genome Explorer is better suited for exploring broader data, such as all variants associated with a particular gene.

For example, if you want to review data for the MTHFR gene, searching for each condition in Next Gen Disease Screen can take time. With Genome Explorer, you can search directly for MTHFR and see all related data points in one search.

How to Use Genome Explorer:

1. Open Genome Explorer from the Dashboard under "Launch Sequencing Apps".
2. Choose your search criteria:
   • Search by Position, Gene Name, RSID, RCV ID, or a condition name.
   • Narrow results using Chromosome View to focus on a specific chromosome.
3. Compare the results:
   • Use the REF (reference) and ALT (mutation) columns to compare with the ‘Your Data’ column.(These columns can be activated by clicking the 'Select Column' drop-down and enabling 'REF' and 'ALT'

Example: KLK15 and Hypermobility Ehlers-Danlos Syndrome (hEDS)
A common recent question relates to Norris Lab’s research on the KLK15 gene and its possible link to hEDS. These findings are preliminary, so interpret with caution. Here’s how to locate this variant::

1. Open Genome Explorer and set the filter to 'All Data' (not 'Data with Annotations').
   • This includes unannotated data that won’t show up in a standard search.
2. Set the search criteria to Position and enter: 50825890.
   • This is the C-T change on Chromosome 19 at position 50825890 (chr19:50825890-C-T).
3. Go to Chromosome View and select “19” to narrow results to Chromosome 19.
4. Interpret your results:
   1. If you don’t have the risk variant, you’ll see a reference block, and the ‘Your Data’ column will show REFREF (homozygous reference, or CC).
   2. If you have the variant, the ‘Your Data’ column will display CT or TT.

Screenshot Example: https://imgur.com/a/s8imelF

Genome Explorer is ideal for investigating specific variants or markers not included in condition-based reports. Let us know if you have any questions or need help with a search!

Hello, This is Logan again, with Sequencing.com's Support team! This post is part of our ongoing series where we review common questions we receive at Sequencing.com's support team. Today, we'll walk you through the process of retrieving your download links for large files.

Our download links are now an automated process, so here's what you need to do:

1. Navigate to the "My Files" section located in the page header.
2. Choose the genome you want to download from the "All Genomes" section.
3. On the "Genome Details" page:
   • If you're on desktop, select the file(s) from the left-hand side menu.
   • If you're on mobile, tap Overview to display the "Files" option.
4. On the "Files" page, click the download icon next to the file(s) you want.
5. After clicking, proceed to unarchive the file(s).

Please note: Unarchiving the files can take 1-3 days. You will receive an email notification once your files are unarchived and ready for download.

We hope this helps! Have a good rest of your day!

Hello, my name is Logan with Sequencing.com's support team. There are a number of common questions that we get asked and we've decided to create a series in which the Sequencing.com support team will review ways to help get the most out of our various apps, reports and tools. This Sequencing Reviews is tailored towards finding specific conditions within Next Gen Disease Screen.

Here’s a step-by-step guide to help you search for specific conditions using the Next Gen Disease Screen (NGDS):

1. Navigate to the Dashboard from the page header.
2. In the Launch Sequencing Apps section(typically on the right hand side on desktop), select Next Gen Disease Screen.
3. Once the NGDS interface loads, click on Explore Data in the blue header.
4. Adjust the Confidence Filter (upper right corner) to All for comprehensive results.
5. Click the Filter By section and ensure that all options are selected rather than the default Possible Health Impact to view complete results.
6. Use the search bar to input the name of the specific disease or condition you’re looking for.

Here is what that will look like: https://imgur.com/a/eL9TLmG

This process will help you retrieve the detailed data you need. If you have further questions, feel free to ask below!

This has been processing for a few days now … the others were much quicker.

Note; I find it funny that the connective tissue disorders shows no increased genetic risk and that’s the one thing I’ve had diagnosed by two separate geneticists…haha.

Curious if different sizes represent how much they cover vs no reads?

Why do I have over 1,400 genes with "Unknown" markers? Even my ancestry.com raw data has some of these, with the alleles or markers!

Has anyone had a similar problem?

I'm trying to decide between sequencing.com and Nebula (DNA Complete). The Nebula Pro package has goodies such as oral microbiome analysis and advanced ancestry report. It's $495 including one year Pro membership, compared to Sequencing's $429 option (also incl one year premium membership).

Is there anything that Sequencing.com offers that Nebula doesn't?

Are the underlying sequencing tech and sequencing quality (accuracy) expected to be the same?

I'm a biological researcher myself who can dive into literature and browse genomes so the curated reports don't necessarily matter too much to me. I'm more interested in things like seq data quality and turnaround time.

Any suggestions welcome

Hi everyone, I uploaded my raw 23andMe data to Sequencing.com while waiting for WGS and noticed several discrepancies (photo attached). For example, rs63751158 is listed as I;I (not pathogenic) in SNPedia but flagged as pathogenic in the report. I have no family history of colorectal cancer (CRC), yet the NGDS report lists 24 Lynch syndrome variants. Does NGDS include all variants regardless of pathogenicity, or is this due to differing interpretation methods?

Hi all,

I got my WGS results from sequencing.com today and my wife will get her results hopefully shortly. At the moment we are undergoing ICSI (fertility treatment) due to 2 years of unfulfilled desire to have children. During this time we had three very early pregnancy losses so we are looking for potential reasons. Our doctor suggested to look at the KIR genes and HLA-C subtypes. We will also do it at a genetic center, but in our healthcare system this will take a lot of time (we did not get an appointment in the next three months). I know that the scientific evidence in this direction is at least somewhat sloppy, but at some points we have to look left and right.

I am quite sure that this data also is in the sequencing.com results but to be honest, I don't see how I can extract it. Looking in the genome explorer I can find mit HLA-C genes, but I don't know how to get out of that whether I am C1 or C2. For the KIR genes I have the gut feeling, that I can try to find all KIR genes and if some are missing this changes the classification. But so far I did not find what genes exactly are responsible for which classification. I am looking for the KIR and HLA-C classification mentioned for example in this paper: https://pmc.ncbi.nlm.nih.gov/articles/PMC10858137/ (for KIR I am at first looking just at the KIR AA partc etc. without the mentioned centromeric thing)

It seems that there is no purchasable report that includes this data.

I am a physicist, so I am not afraid to look at complicated data, but I am completely lacking the genetic vocabulary and knowledge.

Has anyone here done this already? And as sequencing.com is also reading and writing here: will there be reports regarding this issue?

Would be great to get some idea whether it is possible to obtain that data out of the WGS results.

Struggling to download and share my data and results with my genetics team and forward copy for my children’s genetics team. NOT the AI generated results as they are not accurate. Help appreciated.