Rare Disease Screen DNA Analysis App for all Genetic Tests

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.

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

 

This DNA analysis app can analyze DNA data from almost any DNA test including genome sequencing. While this app is compatible with 23andMe, Ancestry, MyHeritage and similar tests, the results may be limited.

The ability for 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 30x clinical-grade whole genome sequencing includes this Rare Disease Screen as well as several other DNA analysis apps and reports.

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. While these tests provide enough data for our other DNA analysis apps and reports, they 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.

This app analyzes your DNA for thousands of rare diseases and traits.

If your DNA data is not already stored in your Sequencing.com account, you can either import your data from a DNA test you've already taken or you can order a DNA test.

You've already taken a DNA test

   

You need a DNA test

Upload your DNA data     Order a DNA test
       
Our Universal DNA Compatibility enables this app to work with DNA data from almost any DNA test.     Our clinical-grade 30x Whole Genome Sequencing test obtains data on 100% of your genome.

Use the Upload Center to upload and use your DNA test or genome sequencing data.

Powered by our Universal DNA Compatibility technology, this report is compatible with data from most genetic tests.

 

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   INDEL
(Insertion Deletion Variants)
  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            
Color            
New Amsterdam Genomics            
24Genetics            
Vitagene            
Helix            
Genos            
tellmeGen            
GSA            
Axiom            
almost all other genetic tests

This DNA analysis app is optimized for Sequencing.com's Whole Genome Sequencing test and Ultimate DNA Test.

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

 

    Ultimate DNA Test   Whole Genome Sequencing
    BUY NOW   BUY NOW
         
Discounted Price   $69  $189   $399  $599
         
Amount of genome tested   1%   100%
         
Technology   Genotyping Microarray   Clinical-Grade 30x Genome Sequencing
         
Also Includes  

Silver Membership to Sequencing.com

 

Silver Membership to Sequencing.com

Wellness & Longevity Health Analysis

Healthcare Pro Report

Rare Disease Screen Analysis

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?

??
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

$19

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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.