Celiac Disease DNA Test

Were you wrongly diagnosed with Irritable bowel syndrome (IBS) and are still searching for answers?

Has a family member been diagnosed with celiac disease and you are concerned about your risk?

Are you on a gluten-free diet making standard celiac testing impossible?

Do you have undiagnosed gastrointestinal symptoms and want to rule out celiac disease?

Are you iron deficient?

Have you been diagnosed with osteoporosis?

Do you have undiagnosed non-gastrointestinal symptoms and want to rule out celiac disease?


Have you had a borderline or ambiguous antibody or small bowel biopsy result?

Do you have dermatitis herpetiformis?

If you answered yes to any of these questions, Celiac Disease DNA testing is recommended.

Celiac Disease, also known as gluten intolerance or celiac sprue, is a genetically influenced chronic autoimmune disorder recognized to affect approximately 1 in 100 Americans, particularly those of European descent. A toxic reaction to gluten (found in barley, wheat, and rye) causes damage to the surface of the small intestine that interferes with the absorption of nutrients, and can cause extremely varied symptoms. Due to the wide range of symptoms, Celiac disease is a highly underdiagnosed condition with approximately 90% of cases currently going undetected. Early diagnosis and lifelong treatment with a gluten-free diet is critical for both symptom relief and reducing the risk of developing long-term conditions such as diabetes or GI cancer.

Celiac Disease DNA testing is not used to diagnose celiac disease, but can quickly, accurately, and painlessly exclude the diagnosis as you must have certain genetic markers in order to develop Celiac disease. According to a recent NIH study, a typical patient currently endures 11 years of symptoms before an accurate diagnosis is found. Since the traditional approach requires blood tests, small intestine biopsies and six months on a gluten-free diet before confirmed diagnosis, many prefer Celiac DNA testing.

Celiac Disease Symptoms
Celiac disease symptoms range widely - they may appear at any time in a person's life or not at all. The disease can be triggered by a stressful event such as surgery, infection, pregnancy, or childbirth.

Gastrointestinal symptoms are often confused with other GI disorders such as IBS (irritable bowel syndrome) and may include:

• Abdominal cramping, intestinal gas, distention and bloating
• Chronic or recurrent diarrhea or constipation (or both)
• Steatorrhea (fatty stools that float rather than sink)
  
• Reflux or vomiting
• Weight loss with large appetite, or weight gain

Other symptoms may include:

• Anemia - unexplained, due to folate, B12, B6, or iron deficiency (or all)
• Vitamin deficiencies
  
• Dermatitis Herpetiformis (DH) - skin manifestation of celiac disease characterized by blistering, intensely itchy skin. The rash has a symmetrical distribution and is most frequently found on the face, elbows, knees and buttocks. DH patients can have gastrointestinal damage without perceptible symptoms.
• Bone or joint pain and/or inflammation
• Chronic fatigue, weakness, or lack of energy
• Migraines
• Depression
• ADD
• Dental enamel defects
• Epilepsy
• Osteopenia or osteoporosis or easily fractured bones
• Infertility and/or recurrent fetal loss
• Mouth ulcers
• Abnormal or impaired skin sensation (paresthesia),
  including burning, prickling, itching or tingling
  
• Peripheral Neuropathy* (tingling in fingers and toes)
• Autoimmune disorders including type-a diabetes, thyroiditis, or Sjogren's syndrome.

In infants, toddlers, and children, the symptoms may include:

• Failure to thrive or grow
• Vomiting
• Paleness
• Behavioral changes such as irritability or inability to concentrate
• Wasted buttocks
• Pot belly with or without painful bloating
• Pale, malodorous, bulky stools
• Frequent, foamy diarrhea
• Delayed puberty

The Testing Process

The process is simple. We send you a cheek swab collection kit in the mail. Samples are returned to our laboratory and results are typically available in 5-7 business days.

1. Farrell RJ and Kelly CP. (2002). Celiac Sprue. N Eng J Med 346:180-188.
2. Fasano A. et al. (2003). Prevalence of celiac disease in at-risk and not-at-risk groups in the United States. Arch Intern Med 163:286:292.
3. Fernandex-Arquero M et al. (1995). HLA-linked genes acting as additive susceptibility factors in celiac disease. Hum Immunol 42:295-300.
4. Sollid LM. (2000). Molecular basis of celiac disease. Annu Rev Immunol 18:53-81.
5. Sollid LM. (2002). Coeliac Disease: dissecting a complex inflammatory disorder. Nat Rev Immunol 2:647-655.