Rare Disease Screen DNA Report

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

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.

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

Getting Started

This 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 one of our DNA tests.

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 Compatibility

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 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 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. 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, 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.

Compatible with data from almost all DNA tests and genome sequencing services.

This genetic analysis performed by this app is designed to work perfectly with our Ultimate Genome Sequencing service

Compare to 23andMe, Ancestry, and similar companies that test less than 0.1% of your genome.

This app performs a type of genetic testing called carrier screening. Learn more about genetic testing for disease in our Education Center.
 

What if I don't have genetic data?

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.

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?

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

$19

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 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.