DNA Rare Disease Screen | Works With All DNA Tests | DNA Reports
Rare Disease Screen DNA Analysis App for all Genetic Tests
$19 / use
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Rare Disease Screen

The world's most comprehensive Carrier Screening.

A single screen of 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:

  • analysis and information on rare syndromes, conditions and traits.
  • an interactive display of all of the diseases, genes and genetic variants analyzed.

Powered by Universal Compatibility technology

  • This app can analyze genetic data from almost any laboratory or genetic testing company.
  • Includes whole genome sequencing (WGS) and exome sequencing as well as 23andMe, Ancestry.com and all other labs.
    • 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, or if the data quality is very low, then the app may only be able to provide partial analysis of some of the traits, conditions or diseases that are analyzed by this app. 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 Ancestry.com, 23andMe, MyHeritage and FTDNA.

$19

Click here to view the full list of rare diseases, syndromes, conditions and traits that are analyzed as part of this app.

To add this app to your My Apps page:

  • Log in to your Sequencing.com account.
  • If you are already logged in, click the 'Add to Cart' button located under the app icon (top left of this page).
    • This app will be added to your cart.
    • Click the cart icon that appears in the top right header of the page and follow the instructions to checkout.

To use this app:

  1. Go to My Apps and click the 'Start App' button.
  2. Select the file that contains your DNA data.
    • Your DNA data first needs to be stored in your account. Use the Upload Center to upload your data.
  3. Click the 'Submit' button
    • The app will study your genes and create a report that's tailored to you.
    • This app is speedy so most reports are ready within minutes! We'll send you an email when your report is ready.

Powered by Sequencing.com's Universal Compatibility technology, the Rare Disease Screen app is compatible with DNA data from all DNA tests.

The ability for this app to analyze each phenotype (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, or if the data quality is very low, then some phenotypes 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.

 

Test Compatibility Format Compatibility
Whole Genome Sequencing (WGS) FASTQ
Exome Sequencing FASTA
Dante Labs BAM
23andMe SAM
AncestryDNA CRAM
MyHeritage VCF
Genes for Good GVCF
Living DNA gVCF
HomeDNA TXT
FamilyTreeDNA (FTDNA) CSV
Silverberry Genomix TAB
Toolbox Genomics gz and zip compressed files
Nebula Genomics almost all other genetic data formats
Color Genomics  
Circle DNA  
Ambry Genetics  
GeneDx  
Baylor Genetics  
24Genetics  
Vitagene  
Helix  
Invitae  
tellmeGen  
Evogenom  
MyGenetics  
23mofang  
Macrogen  
BGI  
Novogene  
WuXi NextCODE  
Full Genomes  
DNA microarrays  
GSA  
Axiom  
almost all other genetic tests
 

What if I don't have genetic data?

You can still use this app. When you sign into the app for the first time you'll have the option to select from a list of sample genetic data if you don't have your own. All of the sample data are from real individuals so the analysis, results and genetic report are real, too.

 

What types of genetic data can I use with this app?

You can use genetic data from almost any laboratory genetic test. This includes:

  • Whole genome sequencing and exome sequencing
  • 23andMe, Ancestry.com, Family Tree DNA and The Genographic Project (National Geographic) 
  • Most DNA genotyping microarrays including Illumina Bead Arrays®, Affymetrix Gene Chips® and the Nexus Chip®

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.

 

Do I need to do anything to the file containing my genetic data before it is analyzed by this app?

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.

 

What about determining sex or reference genome used when the data was created?

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).

 

What do the question marks and dashes represent in the 'My Genetic Makeup' column of this table?

??
Two question marks are used when your genetic data file did not contain any data on this specific genetic variant and therefore the data was not tested for and is 'Unknown'. Two question marks are used because each person's DNA contains two copies of that genetic variant so there is one question mark for each copy of the genetic variant in your DNA.
 
?
A single question mark will appear when your genetic data file did not contain any data on this specific genetic and DNA commonly only contains a single copy of that genetic variant. 
For example, all variants on the mitochondrial chromosome (Chromosome "M") exist as a single copy because DNA only contains a single copy of the mitochondrial chromosome. This is different from most chromosomes, which appear duplicate (there are two copies of chromosome 1, two copies of chromosome 2, etc.). If the variant is on a chromosome that there is only a single copy of and there is no data on that variant in the data file then only a single question mark will appear.
 
--
Two dashes are used if your genetic data file does include information about this specific genetic variant but the data is a 'No Call.' A 'No Call' means the lab that generated the file determined that the variant's test result did not pass quality control. A 'No Call' may also appear when Sequencing.com's additional quality control determines a variant's result is not reliable and may provide inaccurate results. Sequencing.com has implemented this additional quality control to ensure that only the highest quality genetic data is analyzed by apps.
Two dashes are used instead of question marks because the genetic data file does contain data on that variant but the variant's results are not reliable.
 
-
A single dash is used when the variant's results are not reliable (ie the test result for that variant fails quality control) and DNA contains only a single copy of that variant. For example, all variants on the mitochondrial chromosome that are tested for by a genetic test but don't pass quality control have a single dash as the variant's result.

The analysis performed by this app utilizes a proprietary combination of data from the following sources:

  • Sequencing.com's Nexus® genotype-phenotype database
  • NCBI's ClinVar database

 

This app can process genetic data in almost any format including:

  • Next-Generation Sequencing (Whole Genome and Exome)
  • FASTA
  • FASTQ
  • BAM and SAM
  • VCF
  • gVCF
  • Clinical+ VCF
  • 23andMe
  • Ancestry.com
  • Family Tree DNA
  • The Genographic Project (National Geographic)
  • Genes for Good

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The genetic analysis and statements that appear in this app 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, treat, cure, or prevent any disease.