Rare Disease Screen | Sequencing.com
$20.00 / file

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.

This app can analyze genetic data from almost any laboratory or genetic testing company. This includes whole genome and exome sequencing as well as 23andMe, Ancestry.com and all other labs.

$20 per file

This app is updated on a regular basis. Once you pay for a file to be analyzed by this app, you can then re-analyze that same file an unlimited number of times for one year for no additional fee.

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.
      • This app includes a free trial.
        • After completing the checkout process, you can use this app one time for free within the first 24 hours.
    • This app will immediately be added to your My Apps page.

To use this app:

  1. Go to My Apps and click the 'Start App' button.
  2. Select the file that contains your genetic 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.


*Upload your genetic data at the Upload Center. If you don't yet have genetic data, don't worry! You can use one of our fun sample genomes. Just start the app and select a sample genome.

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 Ancestry.com, 23andMe and National Geographic.


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).

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)
  • BAM and SAM
  • VCF
  • gVCF
  • Clinical+ VCF
  • 23andMe
  • Ancestry.com
  • Family Tree DNA
  • The Genographic Project (National Geographic)
  • Genes for Good

Wellness & Longevity

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.

Healthcare Pro

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 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.