Rare Disease Screen

The world's most comprehensive Carrier Screening & Rare Disease DNA Report.

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:

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

View the full list of rare diseases, syndromes, conditions, and traits analyzed by this Rare Disease Screen 2.0.

Getting Started

This genetic testing for diseases app is compatible with most DNA tests including 23andMe, AncestryDNA, and MyHeritage. 

Simply upload your DNA data to use this app. If you haven't yet taken a DNA test, order genome sequencing.

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.

Universal DNA Compatibility

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.

Learn More About Important DNA Breakthroughs

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.