Testing Methods for Celiac Disease

genetic test

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  • To help diagnose celiac disease, your physician will first inquire about your medical and family history, especially if you already have a close relative with the illness
  • After undergoing these tests, your physician can refer you to a gastroenterologist who will perform an endoscopic biopsy to look at your GI tract

Testing for celiac disease could be vital in preventing symptoms from worsening. These groups of people should prioritize screening for this disorder:1

Children older than 3 years old or adults experiencing symptoms of celiac disease

First-degree relatives of people with the illness

Any person with an associated autoimmune disorder or other conditions such as:

Type 1 diabetes mellitus

Autoimmune liver or thyroid disease

Down syndrome

Williams syndrome

Turner syndrome

Selective immunoglobulin A (IgA) deficiency

Initial Steps in Celiac Disease Diagnosis

To help diagnose celiac disease, your physician will first inquire about your medical and family history, especially if you already have a close relative with the illness. A physical exam might also be done, which involves:2

Checking the body for rashes or malnutrition

Listening to sounds in your abdomen using a stethoscope

Tapping your abdomen to examine for pain and fullness or swelling

A dental check-up is sometimes advised too, since enamel defects, which appear as white, yellow or brown spots on your teeth, are an indicator of celiac disease.3

Tests Used to Identify Celiac Disease

Your physician may recommend that you take any of these tests to confirm that you have celiac disease:4,5

Serology test: This test looks for antibodies in your blood. Elevated levels of antibody proteins are common among those with untreated celiac disease, because of the body’s reaction to gluten.6 Eating foods with gluten is a must if you’re taking this test to ensure accurate results.

The Tissue Transglutaminase Antibodies (tTG-IgA) test is the most used and most sensitive blood test that is done for celiac disease diagnosis. However, the IgA Endomysial antibody (EMA), total serum IgA or deaminated gliadin peptide (DGP IgA and IgG) are also blood tests used for celiac disease diagnosis.

Genetic test: This involves looking for two human leukocyte antigens called HLA-DQ2 and HLA-DQ8 via a blood test, saliva test or cheek swab. These genes are present in the majority of people with celiac disease.7

Negative test results mean that you don’t have celiac disease. However, if the test shows that you have any or both of these genes, this doesn’t mean that you automatically have celiac disease. It’s estimated that only 1 in 30 people with these genes develop the illness.8 The Celiac Disease Foundation recommends that these people take a genetic test:

People following a gluten-free diet, as a celiac antibody test might not be accurate

People whose diagnosis of celiac disease isn’t clear because of:

Ambiguous antibody testing results, especially for children below 3 years old

Equivocal intestinal biopsy results

Discrepancy between antibody and biopsy findings

Relatives of people with celiac disease(in order to evaluate risk)

The Final Diagnostic Method for Celiac Disease

After undergoing these tests, your physician can refer you to a gastroenterologist who will perform an endoscopic biopsy to look at your GI tract. This is the final step in the diagnostic process for celiac disease.9 The procedure lasts for less than half an hour and utilizes sedatives and/or local anesthesia.10,11

The first part of this procedure is an endoscopy, which uses a long and thin tube with a camera at the end. The tube is inserted through your mouth and goes down to the esophagus and into the small intestine via the entryway called the duodenum.12,13 The second phase is the biopsy, wherein a small tissue sample is taken to analyze the damage to the villi, or small intestine lining.14

On the other hand, if there are signs of dermatitis herpetiformis, a condition characterized by itchy, burning and blistering rashes,15 a skin biopsy could be performed. Tiny pieces of skin tissue are removed so the presence of antibodies common in celiac disease can be verified. If these antibodies are present, further blood tests are done to confirm if the patient has celiac disease.16

MORE ABOUT CELIAC DISEASE

Celiac Disease: Introduction

What Is Celiac Disease?

Celiac Disease In Children

Celiac Disease Causes

Celiac Disease Types

Celiac Disease Symptoms

Celiac Disease Diagnosis

Celiac Disease Treatment

Celiac Disease Prevention

Celiac Disease Diet

Celiac Disease FAQ

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