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Test Info

Celiac Genetic Health Risk Report

TECHNICAL DETAILS

The GlutenID Celiac Genetic Health Risk (GHR) Test uses qualitative genotyping to detect clinically relevant variants in genomic DNA isolated from human saliva collected by for the purpose of reporting and interpreting genetic risk for celiac disease.

The Celiac Genetic Risk Health Report is indicated for:

  • Reporting of one variant associated with the HLA-DQ2.5 haplotype, one variant associated with the HLADQ8 haplotype, one variant associated with the HLA-DQ7 haplotype, and three variants associated with the HLA-DQ2.2 haplotype.
  • Describing if a person has variants linked to a haplotype within a gradient of increased risk for developing celiac disease, but it does not describe a person’s overall risk of developing celiac disease. The GlutenID test is relevant for people with all different ethnic backgrounds.

The College of American Pathologists and American College of Gastroenterology recommend celiac genetic risk testing in certain scenarios including:

  • Using the high negative predictive value (NPV) of ‘non-celiac genetics’(NCG) to rule out a diagnosis of celiac disease.
  • Assessing genetic risk in celiac family members,
  • Supporting a celiac disease diagnosis for individuals on a gluten-free diet and in those with equivocal

    serologic and/or biopsy results

Approximately 95% of all cases of celiac disease are associated with one or more copies of HLA- DQ2.5(cis) and/or HLA-DQ8 haplotypes.

Accuracy was determined by comparing next generation sequencing (NGS) results from the GlutenID test with results from bi-directional Sanger sequencing. Results showed 100% accuracy between the two methods.

  • This test does not test for emerging celiac-associated genetic markers with insufficient level of evidence (LOE) to be classified as clinically relevant.
  • While unlikely, this test may provide false positive or false negative results.
  • Genetic tests offered by other companies may be detecting different genetic variants for the samedisease so the user may receive different results using a test from a different company.

Celiac Genetic Health Risk Report

GLUTENID® GENETIC HEALTH RISK CATEGORIES

The GlutenID® Celiac Disease Genetic Health Risk test uses three (3) categories to describe a person’s risk of developing celiac disease based on DNA testing.

Each GlutenID® result is associated with one of these risk categories:

Risk Categories
Description
Increased risk
You have an increased chance to develop celiac disease compared to people who have no genetic risk. Over 8% of people with this genetic result will get celiac disease in their lifetime.
Low risk
You have a slightly increased chance to develop celiac disease compared to people who have no genetic risk. 0.05% – 5% of people with this genetic result will get celiac disease in their lifetime.
Not likely at risk
You have no genetic risk to develop celiac disease which means you are not likely at risk to get the condition. Less than 0.04% of people with this genetic result will get celiac disease in their lifetime.

Celiac Genetic Health Risk Report (0 Variants)

FREQUENTLY ASKED QUESTIONS

Celiac disease is an autoimmune condition. It can be triggered when genetically at-risk people consume dietary gluten. In response to gluten, the person’s immune system attacks and damages the lining of the small intestine. Celiac disease causes both digestive (e.g., diarrhea, weight loss, abdominal pain) and non-digestive (e.g., anemia, chronic fatigue, vitamin deficiencies) symptoms. The complete list of potential symptoms is very long and variable.

Yes, celiac disease can affect anyone of any age, any gender, and from any part of the world. Symptoms can appear from infancy into adulthood. It is more common in biological females.

Celiac disease is treated with a gluten-free diet. In most cases, removing gluten from the diet completely repairs the intestine.

The GlutenID test determines a person’s risk for celiac disease based on DNA testing.

The GlutenID test detects the presence or absence of celiac risk haplotype variants. It looks for markers (or tag SNPs) associated with celiac risk haplotypes located close to two genes called HLA- DQA1 and HLA-DQB1. The test is >99% accurate.

In rare cases, this test may provide false positive or false negative results.

No, the GlutenID test only looks for the presence or absence of four (4) specific haplotypes associated with a risk for celiac disease. These are the celiac risk variants. They are called DQ2, half-DQ2, DQ7, and DQ8.

This means you DO NOT have a genetic risk for celiac disease. A person who does not have a genetic risk for celiac disease, like you, is very unlikely to develop the condition.

Based on DNA testing, you are not likely at risk for celiac disease. Based on your health history, this result may be important to share with your doctor. With this result, a doctor may recommend reducing
(or stopping) screening for celiac disease because the risk is so low. Or a doctor may use this information to help diagnose a person with non-celiac gluten sensitivity.

No, based on your results, you do not need to consider removing gluten from your diet, however in any case, it is important to talk to your healthcare provider before making any changes to your diet or lifestyle.

This test does not diagnose celiac disease, gluten or wheat-related sensitivities, or any other condition. While it would be rare for you to develop celiac disease, your result does not mean you are not at risk for gluten sensitivity. This test does not provide any information about risk for non-celiac gluten sensitivity.

It does not replace a visit with your healthcare provider.

The GlutenID test is based on current knowledge. It does not detect all possible genetic risk factors for celiac disease. Scientific understanding will continue to improve over time. Additional relevant variants may be established in the future that are not covered by this test.

The celiac risk variants are passed down in families. Some of your family members may have similar results to you and are not likely at risk for celiac disease. However, some of your relatives may have genetic risk variants for celiac disease. Your relatives can have GlutenID testing to clarify their risk.

The GlutenID test is relevant for people with all different backgrounds. The celiac risk variants have been studied the most in people with European ancestry but have been found in people of all ethnicities.

The celiac risk variants have been studied the most in people with European ancestry but have been found in people of all ethnicities. This means if you have Hispanic, African, Asian, or other non- European ancestry, the GlutenID test still applies to you.

To learn more about what these results mean for your health, speak with your health care provider. To learn more about what these results mean for you and your family, speak with a genetic counselor. To learn more about celiac disease in general visit one of these websites: nationalceliac.org, beyondceliac.org, celiac.org

Ask your doctor to refer you or find a genetic counselor at findageneticcounselor.nsgc.org.

Celiac Genetic Health Risk Report (One Variant)

FREQUENTLY ASKED QUESTIONS

Celiac disease is an autoimmune condition. It can be triggered when genetically at-risk people consume dietary gluten. In response to gluten, the person’s immune system attacks and damages the lining of the small intestine. Celiac disease causes both digestive (e.g., diarrhea, weight loss, abdominal pain) and non-digestive (e.g., anemia, chronic fatigue, vitamin deficiencies) symptoms. The complete list of potential symptoms is very long and variable.

Yes, celiac disease can affect anyone of any age, any gender, and from any part of the world. Symptoms can appear from infancy into adulthood. It is more common in biological females.

Celiac disease is treated with a gluten-free diet. In most cases, removing gluten from the diet completely repairs the intestine.

The GlutenID test determines a person’s risk for celiac disease based on DNA testing.

The GlutenID test detects the presence or absence of celiac risk haplotype variants. It looks for markers (or tag SNPs) associated with celiac risk haplotypes located close to two genes called HLA- DQA1 and HLA-DQB1. The test is >99% accurate.

In rare cases, this test may provide false positive or false negative results.

No, the GlutenID test only looks for the presence or absence of four (4) specific haplotypes associated with a risk for celiac disease. These are the celiac risk variants. They are called DQ2, half-DQ2, DQ7, and DQ8.

This means you have a genetic risk for celiac disease. Symptoms of celiac disease can be triggered when a person with a genetic risk eats gluten in their diet. This result does not mean you have or will develop celiac disease. Many people who have a genetic risk never develop the condition.

Based on DNA testing, your chance to develop celiac disease is slightly increased when compared to people with no genetic risk. Talk to your doctor about this result. They can discuss next steps for you. Your doctor may (or may not) recommend other tests for celiac disease based on your health and family history.

No, talk to your healthcare provider before making any changes to your diet or lifestyle. Remember, this result does not mean you have or will develop celiac disease. Many people who have a genetic risk never develop the condition.

This test does not diagnose celiac disease, gluten or wheat-related sensitivities, or any other condition. Many people with a celiac risk variant will never develop celiac disease. This test cannot predict who will or will not develop the condition.

It does not replace a visit with your healthcare provider.

It does not detect all possible genetic risk factors for celiac disease. The GlutenID test is based on current knowledge. Scientific understanding will continue to improve over time. Additional relevant variants may be established in the future that are not covered by this test.

Celiac disease runs in families. There is a chance your first-degree relatives (parents, siblings, and children) also have the same celiac risk variant as you. Your relatives can have GlutenID testing to clarify their risk.

The GlutenID test is relevant for people with all different backgrounds. The celiac risk variants have been studied the most in people with European ancestry but have been found in people of all ethnicities.

The celiac risk variants have been studied the most in people with European ancestry but have been found in people of all ethnicities. This means if you have Hispanic, African, Asian, or other non- European ancestry, the GlutenID test still applies to you.

To learn more about what these results mean for your health, speak with your health care provider. To learn more about what these results mean for you and your family, speak with a genetic counselor. To learn more about celiac disease in general visit one of these websites: nationalceliac.org, beyondceliac.org, celiac.org

Ask your doctor to refer you or find a genetic counselor at findageneticcounselor.nsgc.org.

Celiac Genetic Health Risk Report (Two Variants)

FREQUENTLY ASKED QUESTIONS

Celiac disease is an autoimmune condition. It can be triggered when genetically at-risk people consume dietary gluten. In response to gluten, the person’s immune system attacks and damages the lining of the small intestine. Celiac disease causes both digestive (e.g., diarrhea, weight loss, abdominal pain) and non-digestive (e.g., anemia, chronic fatigue, vitamin deficiencies) symptoms. The complete list of potential symptoms is very long and variable.

Yes, celiac disease can affect anyone of any age, any gender, and from any part of the world. Symptoms can appear from infancy into adulthood. It is more common in biological females.

Celiac disease is treated with a gluten-free diet. In most cases, removing gluten from the diet completely repairs the intestine.

The GlutenID test determines a person’s risk for celiac disease based on DNA testing.

The GlutenID test detects the presence or absence of celiac risk haplotype variants. It looks for markers (or tag SNPs) associated with celiac risk haplotypes located close to two genes called HLA- DQA1 and HLA-DQB1. The test is >99% accurate.

In rare cases, this test may provide false positive or false negative results.

No, the GlutenID test only looks for the presence or absence of four (4) specific haplotypes associated with a risk for celiac disease. These are the celiac risk variants. They are called DQ2, half-DQ2, DQ7, and DQ8.

This means you have a genetic risk for celiac disease. Symptoms of celiac disease can be triggered when a person with a genetic risk eats gluten in their diet. This result does not mean you have or will develop celiac disease. Many people who have a genetic risk never develop the condition.

Based on DNA testing, your chance to develop celiac disease is higher than people in the general population. Talk to your doctor about this result. They can discuss next steps for you based on your health and family history. Your doctor may recommend other tests for celiac disease.

No, talk to your healthcare provider before making any changes to your diet or lifestyle. Remember, this result does not mean you have or will develop celiac disease. Many people who have a genetic risk never develop the condition.

This test does not diagnose celiac disease, gluten or wheat-related sensitivities, or any other condition. Many people with a celiac risk variant will never develop celiac disease. This test cannot predict who will or will not develop the condition.

It does not replace a visit with your healthcare provider.

It does not detect all possible genetic risk factors for celiac disease. The GlutenID test is based on current knowledge. Scientific understanding will continue to improve over time. Additional relevant variants may be established in the future that are not covered by this test.

Celiac disease runs in families. There is a chance your first-degree relatives (parents, siblings, and children) also have the same celiac risk variant as you. Your relatives can have GlutenID testing to clarify their risk.

The GlutenID test is relevant for people with all different backgrounds. The celiac risk variants have been studied the most in people with European ancestry but have been found in people of all ethnicities.

The celiac risk variants have been studied the most in people with European ancestry but have been found in people of all ethnicities. This means if you have Hispanic, African, Asian, or other non- European ancestry, the GlutenID test still applies to you.

To learn more about what these results mean for your health, speak with your health care provider. To learn more about what these results mean for you and your family, speak with a genetic counselor. To learn more about celiac disease in general visit one of these websites: nationalceliac.org, beyondceliac.org, celiac.org

Ask your doctor to refer you or find a genetic counselor at findageneticcounselor.nsgc.org.

Celiac Genetic Health Risk Report

DEFINITIONS

When the body’s defense system mistakenly attacks its own cells and tissues, causing health problems.

An autoimmune condition where eating gluten harms the small intestine. This makes it hard to absorb nutrients.

Specific genetic changes that make it more likely for someone to develop celiac disease.

The genetic material inside our cells that has the instructions to tell the body how to grow, develop, and work.

Genes are made up of DNA. Genes carry the instructions to tell our bodies how to grow and work. They contribute to traits and influence our chance to get certain diseases. A person inherits genes from their parents.

Small differences in our genes that make us each unique. Genetic variants help determine our traits, like height or eye color. They can also impact our risk for certain diseases.

Gluten is a protein in wheat, barley, and rye. It is found in foods which contain these grains.

Eating foods without gluten to manage conditions like celiac disease or gluten sensitivity.

A condition where people have symptoms after consuming gluten, but without the autoimmune response seen in celiac disease.

A group of genetic markers that usually stick together when they are passed down.

The body’s defense system that protects against infections and diseases.

Celiac Genetic Health Risk Report

REFERENCES

1.Megiorni et al., (2008). “HLA-DQ and risk gradient for celiac disease.” Hum Immunol 70:55-59
2. Monsuur et al., (2008). “Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymoprhisms.” PLoS ONE 3(5): e2270. doi:10.1371/journal.pone.0002270
3. Pietzak et al., (2009). “Stratifying risk for celiac disease in a large at-risk United States population by using HLA alleles.” Clin Gastroenterl Hepatol 7:966-971.
4. Taylor et al., (2015). “Celiac disease.” https://www.ncbi.nlm.nih.gov/books/
5. Pisapia et al., (2020). “Differential expression of pre-disposing HLA-DQ2.5 alleles in DR5/DR7 celiac disease patients affects the pathological immune response to gluten. Nature Sci Rep 10,17227 https://doi.org/10.1038/s41598-020-73907-2
6. Bajor et al., (2019). “Classical celiac disease is more frequent with a double dose HLA-DQB1*02: A systematic review with meta-analysis.” PLoS ONE 14(2): e0212329.
7. Pallav et al., (2014). “Clinical utility of celiac disease associated HLA testing.” Dig Dis Sci 59:2199-2206.
8. Al-Toma et al., (2006). “Human leukocyte antigen-DQ2 homozygosity and the development of refractory celiac disease and enteropathy-associated T-cell lymphoma.” Clin Gastroenterol Hepatol 4:351-319.
9. Vader et al., (2010). “The HLA-DQ2 gene dose effect in celiac disease is directly related to the magnitude and breadth of gluten-specific T cell responses.” Proc Natl Acad Sci USA 100:12390-12395.
10. Singh et al., (2018). “Global prevalence of celiac disease: systematic review and meta-analysis.” Clin Gastroenterol and Hepatol 16:823-83.
11. Liu et all., (2017). High incidence of celiac disease in a long-term study of adolescents with susceptibility genotypes. Gastroenterology 152:1329-1336.
12. Kavamme et al., (2020). Population-based screening for celiac disease reveals the majority of patients are undiagnosed and improve on a gluten free diet. Scientific Reports 12:12647.
13. Choung et al., (2020). Celiac disease risk stratification based on HLA-DQ heterodimer (HLA-DQA1~DQB1) typing in a large cohort of adults with suspected celiac disease. Human Immunology 81:59-64.
14. Almeida et al., (2016). Presence of DQ2.2 associated with DQ2.5 increases the risk for celiac disease. Autoimmune Diseases. Volume 2016, Article ID5409653; http://dx.doi.org/10.1155/2016/5409653.