A single genetic screen for more than 1,200 rare diseases, syndromes, conditions, and traits.
The app analyzes genetic data from a person and provides clear information about whether that person is likely to be affected by, or be a carrier of, a rare disease. The app also provides:
View the full list of rare diseases, syndromes, conditions, and traits analyzed by this Rare Disease Screen 2.0.
Once your DNA data is stored in your Sequencing.com account, click the app's 'Start' button. You'll receive your results in about 15 minutes for most data files or up to 12 hours for whole genome sequencing data files.
Rare Disease Screening Package
|Amount of genome tested||100%|
|Technology||30x Genome Sequencing|
30x Whole Genome Sequencing
Full access to all raw genome data and analyzed data
Includes your choice of 2 additional DNA reports
The Rare Disease Screen 2.0 can analyze DNA data from most genetic tests and DNA kits including exome and whole genome sequencing.
While this app is compatible with 23andMe, Ancestry, MyHeritage, and similar tests, the results may be limited.
The ability of this Rare Disease Screen to analyze each trait, condition, and disease will depend upon the amount of data in your DNA data file. This app is optimized for whole genome sequencing (WGS) data because WGS provides data on 100% of the genome, which enables this screen to perform the most comprehensive analysis.
If you haven't yet had your whole genome sequenced, Sequencing.com's Ultimate Genome Sequencing Rare Disease Screen Package, which combines 30x whole genome sequencing with advanced analysis and comprehensive reports, includes this Rare Disease Screen for free.
DNA tests that use 'genotyping microarray technology', such as the tests used by 23andMe, Ancestry, and MyHeritage, do not test the whole genome. Instead, these types of tests only provide data on a small subset of a person's genome. These tests provide enough data for our other DNA analysis apps and reports but only provide a subset of the DNA data analyzed by this Rare Disease Screen.
While the Rare Disease Screen will analyze the data that is provided from genotyping microarray tests, there will be gaps in the analysis because these tests do not provide data on a person's entire genome. Because of this, some of the traits, conditions, and diseases may not be able to be fully analyzed or may not be able to be analyzed at all.
The results will indicate if this occurs. For example, if there is no DNA data available in a DNA data file for a specific disease to be analyzed then the result will indicate this in the 'Analysis Alerts' section in the 'No genetic data available' table.
Sequencing's new Education Center provides everything you need to know about recent DNA discoveries that may benefit your life. This includes learning more about carrier screening and genetic testing for disease, which is the type of DNA analysis performed by this app.
If you're interested in how DNA is used throughout society, The Sequencing Blog is a great resource. Our blog includes the latest trends and technological advancements that are integrating DNA into our daily lives including articles about how you can use your own DNA to optimize your beauty, lifestyle, and health.
|Test Compatibility||Format Compatibility||Variant Compatibility||Reference Genome Compatibility|
|Whole Genome Sequencing||FASTQ and FQ||SNP / SNV
(Single Nucleotide Variants)
|hg38 / GRCh38|
|Exome Sequencing||FASTA and FA||hg19 / GRCh37|
|Ultimate DNA Test||BAM||hg18 / GRCh36|
|23andMe||SAM||hg17 / GRCh35|
|Dante Labs||Genome VCF (gVCF and GVCF)|
|Genes for Good||CSV|
|HomeDNA||gz and zip compressed files|
|FTDNA||almost all other genetic data formats|
|New Amsterdam Genomics|
|almost all other genetic tests|
Compare to 23andMe, Ancestry, and similar companies that test less than 0.1% of your genome.
Ultimate DNA Test
Ultimate Genome Sequencing
|Amount of genome tested||1%||100%|
|Technology||Enhanced Genotyping Microarray||30x Whole Genome Sequencing|
Silver Membership to Sequencing.com
(includes your choice of DNA analysis apps & reports)
Silver Membership to Sequencing.com
All of the genes on chromosomes 1-22 exist as a pair. For example, the CFTR gene is located on chromosome 7 and each person has two copies of chromosome 7. This means there's one CFTR gene on one of the copies of chromosome 7 and another CFTR gene on the other copy of chromosome 7.
One copy is inherited from the mother and the other copy is inherited from the father. Our analysis analyzes both copies of the gene, which is referred to as diploid analysis.
If your genetic data indicates you are a 'carrier' of a mutation, this means you have a mutation in one copy of the gene while the other copy of the gene does not have that mutation. It also means the disease or condition that is associated with that mutation is inherited in an autosomal recessive pattern.
When one copy of the gene has a disease-associated mutation while the other copy does not, this is known as being 'heterozygous' for that mutation.
When both copies of the gene have the same disease-associated mutation, this is known as being 'homozygous risk' for the disease-associated mutation.
Most people who are affected by an autosomal recessive disease are 'homozygous risk' for a single disease-assocaited mutation. Some people, however, may have two or more heterozygous mutations. This is where the analysis can become even more complex!
Instead of just a single mutation that exists in both copies of the gene (homozygous risk), people with two or more heterozygous mutations may have all of the mutations on one copy of the gene while the other copy of the gene doesn't have any mutations or there may be a mix of some mutations on one copy of the gene and other mutations on the other copy.
The ability to determine which specific copy of a gene each mutation is on is called 'phasing'. While our bioinformatics team is working on new technology to allow whole genome sequencing data to be phased, currently this is not possible.
Because phasing is not yet possible when there are two or more heterozygous mutations in a gene, whole genome sequencing is unable to identify if all of the disease-associated mutations exist on the same copy of the gene or if some exist on one copy of the gene and other mutations exist on the other copy.
Since phasing is not yet available, the Rare Disease Screen performs genetic variant-level (mutation-level) analysis, which means the results are provided on a variant level. Interpretation is not provided on a gene level or a disease or condition level. So the results will indicate the risk associated with each specific genetic variant.
If your results state that two or more genetic variants in the same gene and associated with the same autosomal recessive disease were identified, the result for both will indicate 'Carrier'.
A healthcare professional, such as a genetic counselor, may be able to further analyze heterozygous mutations along with other information, such as symptoms and medical history, to provide further insight into whether the mutations are compound heterozygous. The healthcare professional may also recommend further confirmatory testing that will phase the mutations.
This app requires DNA data. To obtain the most comprehensive results, order our 30x Whole Genome Sequencing test. It includes the Rare Disease Screen as well as several other DNA health apps.
You can use genetic data from almost any laboratory genetic test. This includes:
Please note that the ability for this app to analyze each trait, condition and disease will depend upon the amount of genetic data in your genetic data file. If there is not enough genetic data in your file then some traits, conditions or diseases may not be able to be fully analyzed or may not be able to be analyzed at all. The results will indicate if this occurs.
For example, if there is no genetic data for a specific disease to be analyzed then the result will indicate this in the 'Analysis Alerts' section in the 'No genetic data available' table. This is more likely to occur if your genetic data file is from a company or laboratory that uses DNA microarray technology for their genetic testing, such as AncestryDNA, 23andMe and MyHeritage.
Good news... the app does everything for you.
All you need to do is either upload or import the file containing your genetic data into your Sequencing.com account. Start the app, select the file and the app will handle do everything else.
23andMe data can be uploaded or imported directly from 23andMe (via the Upload Center) while Ancestry.com, Family Tree DNA and The Genographic Project data can be obtained from those services and then uploaded to your account at Sequencing.com. You don't need to do anything to the file you obtain from these services... just upload the file to your secure account at Sequencing.com and then you can use it to power most apps.
Both whole and exome sequencing data can be provided unaligned (such as in FASTQ or FASTA formats), aligned but without variant calling (such as BAM or SAM formats) or in VCF, CRAM or AVRO formats.
Some more good news... the app does this as well. It utilizes an advanced automated approach to determine sex and reference genome (if the file format is downstream of alignment).
Clear solutions for better health. This app analyzes dozens of preventable diseases such as heart disease and cancer and empowers you with a straightforward, actionable report you can use to protect and optimize your health.
Genetic analysis and actionable reports for the practicing healthcare professional. Includes assessment and straightforward information for common, preventable diseases and medication reactions.
The genetic analysis and statements that appear in this app and report have not been evaluated by the United States Food and Drug Administration. The Sequencing.com website and all software applications (Apps) that use Sequencing.com's website, as well as Sequencing.com's open Application Programming Interface (API), are not intended to diagnose, monitor, treat, cure, prevent nor alleviate any disease.