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:
The Rare Disease Screen 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 for 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 service, which combines clinical-grade 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. While these tests provide enough data for our other DNA analysis apps and reports, they 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.
If your DNA data is not already stored in your Sequencing.com account, you can either import your data from a DNA test you've already taken or you can order a DNA test.
You've already taken a DNA test
You need a DNA test
|Upload your DNA data||Order a DNA test|
|Our Universal DNA Compatibility enables this app to work with DNA data from almost any DNA test.||Our clinical-grade 30x Whole Genome Sequencing test obtains data on 100% of your genome.|
Powered by our Universal DNA Compatibility technology, this report is compatible with data from most genetic tests.
|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||INDEL
(Insertion Deletion Variants)
|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 that test less than 0.1% of your genome.
|Ultimate DNA Test||Whole Genome Sequencing|
|BUY NOW||BUY NOW|
|Amount of genome tested||1%||100%|
|Technology||Genotyping Microarray||Clinical-Grade 30x Genome Sequencing|
Silver Membership to Sequencing.com
Silver Membership to Sequencing.com
This app requires DNA data. To obtain the most comprehensive results, order our 30x Clinical-Grade 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.