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.

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.
 

Why do the results say 'carrier' of two different genetic variants (mutations) when I know I'm affected by that condition?

All of the genes on chromosomes 1-22 exist as a pair. For example, the CFTR gene is located on chromosome 7 and each person has two copies of chromosome 7. This means there's one CFTR gene on one of the copies of chromosome 7 and another CFTR gene on the other copy of chromosome 7.

One copy is inherited from the mother and the other copy is inherited from the father. Our analysis analyzes both copies of the gene, which is referred to as diploid analysis.

If your genetic data indicates you are a 'carrier' of a mutation, this means you have a mutation in one copy of the gene while the other copy of the gene does not have that mutation. It also means the disease or condition that is associated with that mutation is inherited in an autosomal recessive pattern. 

When one copy of the gene has a disease-associated mutation while the other copy does not, this is known as being 'heterozygous' for that mutation.

• Autosomal recessive diseases require both copies of the gene to be associated by a mutation so if only one copy is affected, the person usually isn't affected by that disease and instead is considered a 'carrier' of the disease. This is because the one copy of the gene without the mutation is able to function normally and is able to provide everything that is needed to prevent the disease.

When both copies of the gene have the same disease-associated mutation, this is known as being 'homozygous risk' for the disease-associated mutation.

• If there is a homozygous risk mutation for an autosomal recessive disease then both copies of the gene are impacted and the person is usually affected by that disease. This is because both copies of the gene are impacted by a mutation so neither of the copies of that gene are able to function optimally. 

Most people who are affected by an autosomal recessive disease are 'homozygous risk' for a single disease-assocaited mutation. Some people, however, may have two or more heterozygous mutations. This is where the analysis can become even more complex!

Instead of just a single mutation that exists in both copies of the gene (homozygous risk), people with two or more heterozygous mutations may have all of the mutations on one copy of the gene while the other copy of the gene doesn't have any mutations or there may be a mix of some mutations on one copy of the gene and other mutations on the other copy.

When there are two or more heterozygous mutations in a gene:

• If all of the disease-associated mutations are on the same copy of the gene then this is most often consistent with being a 'carrier' for an autosomal recessive disease.
• If one or more of the disease-associated mutations are on one copy of the gene while the other copy of the gene also contains at least one of the disease-associated mutations then this is known as 'compound heterozygous.'
  • Compound heterozygous means each copy of the gene is affected by different disease-associated mutations. This is similar to homozygous risk because both copies of the gene are impacted and this is most often consistent with the person being affected by the disease. 

The ability to determine which specific copy of a gene each mutation is on is called 'phasing'. While our bioinformatics team is working on new technology to allow whole genome sequencing data to be phased, currently this is not possible.

Because phasing is not yet possible when there are two or more heterozygous mutations in a gene, whole genome sequencing is unable to identify if all of the disease-associated mutations exist on the same copy of the gene or if some exist on one copy of the gene and other mutations exist on the other copy.

Since phasing is not yet available, the Rare Disease Screen performs genetic variant-level (mutation-level) analysis, which means the results are provided on a variant level. Interpretation is not provided on a gene level or a disease or condition level. So the results will indicate the risk associated with each specific genetic variant.

If your results state that two or more genetic variants in the same gene and associated with the same autosomal recessive disease were identified, the result for both will indicate 'Carrier'.

• This is because the analysis is at the genetic variant level and the result is based on each specific genetic variant. The result is not based on combining the risks from two or more different variants even if both variants exist within the same gene.
• So if there are two or more disease-associated variants in the same gene for the same autosomal recessive disease, the result for each of those heterozygous variants will be 'Carrier.'
• This doesn't necessarily mean that you are a carrier of that disease since, if the variants in that gene are compound heterozygous then you may be affected by that disease.

A healthcare professional, such as a genetic counselor, may be able to further analyze heterozygous mutations along with other information, such as symptoms and medical history, to provide further insight into whether the mutations are compound heterozygous. The healthcare professional may also recommend further confirmatory testing that will phase the mutations.

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?

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

$90

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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.