DNA testing is available through a cheek swab) to determine whether or not an at-risk individual carries the genes responsible for the development of celiac disease. These genes are located on the HLA-class II complex and are called DQ2 and DQ8.
Price: $495 (Testing and Consult)
FAQs
No- This test is done at home and comes with prepaid shipping materials and everything you need to ensure proper delivery to the lab.
Web results are posted within 2-3 weeks. Our office will notify you when test results have been reported.
Yes. The kit comes with easy to follow instructions
Yes. Dr Hagmeyer will review the test result with you. Each test comes with a 30-45 minute post-test review/explanation.
One we have placed the order for the test we are unable to issue a refund.
Symptoms
The signs and symptoms of celiac disease can vary greatly and differ in children and adults. Digestive signs and symptoms for adults include:
- Diarrhea
- Fatigue
- Weight loss
- Bloating and gas
- Abdominal pain
- Nausea and vomiting
- Constipation
However, more than half the adults with celiac disease have signs and symptoms unrelated to the digestive system, including:
- Anemia, usually from iron deficiency
- Loss of bone density (osteoporosis) or softening of bone (osteomalacia)
- Itchy, blistery skin rash (dermatitis herpetiformis)
- Mouth ulcers
- Headaches and fatigue
- Nervous system injury, including numbness and tingling in the feet and hands, possible problems with balance, and cognitive impairment
- Joint pain
- Reduced functioning of the spleen (hyposplenism)
Children
Children with celiac disease are more likely than adults to have digestive problems, including:
- Nausea and vomiting
- Chronic diarrhea
- Swollen belly
- Constipation
- Gas
- Pale, foul-smelling stools
The inability to absorb nutrients might result in:
- Failure to thrive for infants
- Damage to tooth enamel
- Weight loss
- Anemia
- Irritability
- Short stature
- Delayed puberty
- Neurological symptoms, including attention-deficit/hyperactivity disorder (ADHD), learning disabilities, headaches, lack of muscle coordination and seizures
Dermatitis herpetiformis
Gluten intolerance can cause this itchy, blistering skin disease. The rash usually occurs on the elbows, knees, torso, scalp and buttocks. This condition is often associated with changes to the lining of the small intestine identical to those of celiac disease, but the skin condition might not cause digestive symptoms.
This is a genetic test, and the results are not dependent on what you have or haven’t been eating.
Order Your Personalized Celiac Gene Test Profile which includes:
- Comprehensive Genetic Testing For Celiac Genes
- One on one consult with Dr. Hagmeyer to discuss Test Results
- Recommendations for a Treatment plan and cost of treatment if necessary.
GENETIC TESTING FOR CELIAC DISEASE
HLA-DQ2 and HLA-DQ8 Gene Test for Celiac Disease
When an individual is diagnosed with celiac disease,the entire family learns that they must be tested for the condition, for they are now at risk.
First degree relatives (parent, child, sibling) have a 1 in 22 chance of developing celiac disease in their lifetimes; in second degree relatives, (aunt, uncle, cousin, grandparent) the risk is 1 in 39.
A simple genetic test can determine if further screening is needed or completely rule out the possibilityofdevelopingthedisease. Ifthegenetictest shows positive for celiac disease, the individual should have antibody screening regularly to help determine if the disease is active.
Celiac disease is linked to heredity, what this means is that you can only develop celiac if you carry the genes that predispose you to it. For this reason more and more doctors are using celiac disease genetic testing to determine if someone has the predisposition to develop the condition.
The genes that predispose you to celiac disease are located on the HLA-class II complex of our DNA, and they’re known as the DQ genes. Everyone has two copies of a DQ gene – one from their mother and one from their father. There are numerous types of DQ genes, but there are two that are important when it comes to the development and predisposition to celiac disease cases: HLA-DQ2 and HLA-DQ8.
Of these, HLA-DQ2 is the most common in the general population, especially among people with European heritage – some 30% or more of people whose ancestors hailed from that part of the world carry HLA-DQ2.
HLA-DQ8 is shows up in about 10% of the overall population, although it’s extremely common in people from Central and South America.
Studies have shown that about 96% of the people diagnosed by biopsy with celiac disease carry DQ2, DQ8 or some combination of the two. Since you get one DQ gene from your mother and one from your father, it’s possible for you to have two copies of DQ2, two copies of DQ8, one copy of DQ2 and one of DQ8, or one copy of either DQ2 or DQ8 combined with another DQ gene.
What’s Being Tested:
- HLA-DQ2 Gene
- HLA-DQ8 Gene
Symptoms of Celiac Disease
The signs and symptoms of celiac disease can vary greatly and differ in children and adults. Digestive signs and symptoms for adults include:
- Diarrhea
- Fatigue
- Weight loss
- Bloating and gas
- Abdominal pain
- Nausea and vomiting
- Constipation
However, more than half the adults with celiac disease have signs and symptoms unrelated to the digestive system, including:
- Anemia, usually from iron deficiency
- Loss of bone density (osteoporosis) or softening of bone (osteomalacia)
- Itchy, blistery skin rash (dermatitis herpetiformis)
- Mouth ulcers
- Headaches and fatigue
- Nervous system injury, including numbness and tingling in the feet and hands, possible problems with balance, and cognitive impairment
- Joint pain
- Reduced functioning of the spleen (hyposplenism)
Children
Children with celiac disease are more likely than adults to have digestive problems, including:
- Nausea and vomiting
- Chronic diarrhea
- Swollen belly
- Constipation
- Gas
- Pale, foul-smelling stools
The inability to absorb nutrients might result in:
- Failure to thrive for infants
- Damage to tooth enamel
- Weight loss
- Anemia
- Irritability
- Short stature
- Delayed puberty
- Neurological symptoms, including attention-deficit/hyperactivity disorder (ADHD), learning disabilities, headaches, lack of muscle coordination and seizures
Dermatitis herpetiformis
Gluten intolerance can cause this itchy, blistering skin disease. The rash usually occurs on the elbows, knees, torso, scalp and buttocks. This condition is often associated with changes to the lining of the small intestine identical to those of celiac disease, but the skin condition might not cause digestive symptoms.
Not Sure Where To Start? Need Some Direction?
We are here to help you! Take a few minutes to fill out my Health Questionnaire. Once I know your top health concerns, your goals and what kind of help you are looking for, I will send you back some of my initial recommendations. If you want to speak with me, I’ll send you a link for a 15 minute phone consult as well.
What is genetic testing and who can benefit from it?
DNA testing is available to determine whether or not an at-risk individual carries the genes responsible for the development of celiac disease.
These genes are located on the HLA-class II complex and are called DQ2 and DQ8. Each case of celiac disease has been found to show these so-called “haplotypes”; therefore, a negative gene test indicates that celiac disease cannot develop in that individual.
There are two main reasons for using the genetic test when evaluating an individual for celiac disease.
The first case is to “rule out” celiac disease, which is a medical term that indicates an individual does not possess a necessary risk factor for the development of celiac disease, genetic predisposition. Without this factor, it is impossible that the individual with a negative gene test will develop celiac disease in the future.
People who test negative for the gene would not be required to have regular antibody screening for the remainder of their lives.
For example, the children of an adult with celiac disease could have the gene test. The results would allow the parent to know which children need close monitoring.
In individuals with symptoms who have not had a biopsy to diagnose celiac disease, but have been on the gluten-free diet for a significant period of time, the gene test is often the only way to determine if symptoms could possibly be related to celiac disease.
For a person who faces this situation, a negative gene test would indicate that symptoms are not the result of celiac disease. A positive gene test, however, does not diagnose the disease but increases the likelihood that it is present.