Rare Disease Carrier Genetic Screening

Rare Disease Screen DNA Report

Rare Disease DNA Test for Genetic Carrier Screening

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.


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 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.



Ultimate Genome Sequencing DNA Collection Kit

Ultimate Genome Sequencing 
Rare Disease Screen Package

Discounted Price $389  $779
Amount of genome tested 100%
Technology 30x Genome Sequencing

Package Includes

  30x Whole Genome Sequencing
Full access to all raw genome data and analyzed data
Includes your choice of 2 additional DNA reports


Universal DNA 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 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.


Sequencing Education Center

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.

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



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       hg19 / GRCh37
Ultimate DNA Test   BAM       hg18 / GRCh36
23andMe   SAM       hg17 / GRCh35
AncestryDNA   CRAM        
MyHeritage   VCF        
Dante Labs   Genome VCF (gVCF and GVCF)        
Nebula Genomics   TXT        
Genes for Good   CSV        
Living DNA   TAB        
HomeDNA   gz and zip compressed files        
FTDNA   almost all other genetic data formats        
Silverberry Genomix            
Toolbox Genomics            
Full Genomes            
New Amsterdam Genomics            
almost all other genetic tests



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.



Ultimate DNA Test Kit

Ultimate DNA Test

Ultimate Genome Sequencing DNA Collection Kit

Ultimate Genome Sequencing

Discounted Price $69  $189 $399  $599
Amount of genome tested 1% 100%
Technology Enhanced Genotyping Microarray 30x Whole Genome Sequencing


Silver Membership to Sequencing.com

(includes your choice of DNA analysis apps & reports)

Silver Membership to Sequencing.com

Wellness & Longevity Health Analysis

Healthcare Pro Report

Rare Disease Screen Analysis

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 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?

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


Icon for the Wellness and Longevity DNA Analysis App that provides easy to understand genetic interpretation of genome data with a focus on identifying genetic disease risk and personalized preventions using the DNA tests from 23andMe, Ancestry & FTDNA.

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.

Icon for the Healthcare Pro DNA Analysis App that provides genetic interpretation of genome data with a focus on healthcare professionals for identifying personalized genetic risk of diseases and medication rxns (pharmacogenomics and pharmacogenetics).

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.