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Our Celiac Disease DNA Test Service Provides:

Celiac Disease DNA Test

Indications for Celiac Disease DNA TestingCeliac disease (also known as gluten-sensitive enteropathy or celiac sprue) is a chronic, autoimmune disorder affecting approximately 1:100 individuals in the U.S. population. In genetically susceptible individuals with HLA-DQ2 and/or HLA-DQ8, ingestion of gluten-containing grains, especially wheat, causes inflammation of the small intestine and leads to malabsorption. Long believed to be a rare gastrointestinal disorder, celiac diesase is now known to be very common and to have a wide range of both gastrointestinal and non-gastrointestinal symptoms. In addition, many individuals have silent celiac disease with no overt clinical symptoms, though damage to the gut mucosa may nevertheless be occurring.

Celiac disease is due to the interactions of several HLA and non-HLA genes with gluten and other environmental factors. It is strongly associated with the human leukocyte antigen (HLA) molecule DQ2 (encoded by alleles DQA1*0501 or *0505 plus DQB1*0201 or *0202) and DQ8 (encoded in part by DQB1*0302). Approximately 92-98% of patients with celiac disease carry DQ2 while the remaining 2-8% of cases carry DQ8. Early diagnosis by antibody testing, DNA testing, and small bowel biopsy is critical. Treatment by elimination of gluten from the diet is essential for preventing future tissue damage and avoiding increased risk of other autoimmune disorders in affected individuals. Tissue transglutaminase antibody and antiendomysial antibody test results can be equivocal depending upon diet adherence and stage of disease. However, celiac disease DNA test results are always reliable and need only be performed once in a lifetime.

Relatives of individuals with celiac disease

Negative or equivocal antibody results (tissue transglutaminase, antiendomysial, or antigliadin) or intestinal biopsy
results in an individual with symptoms of celiac disease

Gastrointestinal symptoms including diarrhea, malabsorption, recurrent abdominal pain, abdominal distention,
weight loss, hepatitis, and/or irritable bowel syndrome
Iron-deficient anemia
Persistently elevated transaminases
Dermatitis herpetiformis
Autoimmune disease including type-1 diabetes, thyroiditis, or Sjögren’s syndrome
Children with failure to thrive, short stature, delayed puberty, irritability, and/or attention-deficit disorder
Infertility and/or recurrent fetal loss
Recurrent aphtous stomatitis and/or dental enamel hypoplasia of permanent teeth
Migraine headaches, peripheral neuropathy, cerebellar ataxia, epilepsy, anxiety, and/or depression
PCR analysis for DQ2 alleles (DQA1*0501, DQA1*0505, and DQB1*0201/*0202) and DQ8 allele (DQB1*0302)
Detailed reports with genetic interpretation, recommendations, and education
Free genetic counseling for physicians, patients, and families
Free shipping

Specimen Requirements

Cheek cell sample OR 5 ml blood in an EDTA (lavender top) tube, room temperature

Turnaround Time

1 business day

©2005 Kimball Genetics Inc. (last updated 1/05)

[email protected]



Doença celíaca causa 4% das enxaquecas 
Migraine Linked to Celiac Disease

Laurie Barclay, MD

March 25, 2003 — About 4% of migraine sufferers may have celiac disease and symptom control may be improved with a gluten-free diet, according to the results of a study published in the March issue of the American Journal of Gastroenterology.

"If larger, randomized, controlled trials confirm these preliminary findings, serological screening for celiac disease could be proposed as part of management of migraine, and the gluten-free diet as the first-line therapy in the subgroup of patients with evidence of celiac disease," write Maurizio Gabrielli, MD, from Gemelli Hospital in Rome, Italy, and colleagues.

Of 90 patients diagnosed with idiopathic migraine, four (4.4%; 95% confidence interval [CI], 1.2 - 11.0%) had celiac disease, compared with 0.4% of 23 blood donors used as controls (95% CI, 0.01 - 2.3; P < .05). These four patients were treated with a gluten-free diet for six months. During that time, one had no migraine attacks, and migraine frequency, duration, and severity improved in the other three. All four patients had resolution of baseline regional reduction in brain tracer uptake on single-photon emission computed tomography scan.

"The improvement observed in both symptoms and cerebral blood flow after a gluten-free diet is intriguing," the authors write, noting that in this uncontrolled study, placebo effect could not be ruled out. "It needs to be clarified, however, whether celiac disease itself is associated with cerebral blood flow abnormalities, or whether these flow alterations are present only in those patients with both celiac disease and migraine. Also, one might argue that migraine has different underlying mechanisms in individuals who are affected by celiac disease versus those who are not."
                                                  Am J Gastroenterol. 2003;98:625-629

                                                      Reviewed by Gary D. Vogin, MD

Segundo esse estudo, em cerca de 4% dos portadores de enxaqueca (migrânia), a causa do problema pode ser doença celíaca, ou alergia a gluten -      

Colaboração do Dr. Stefano Jorge


Doença celíaca em 3% das anemias ferroprivas 

Celiac Disease Present in About 3% of Patients With Iron-Deficiency Anemia

News Author: Laurie Barclay, MD

Feb. 12, 2004 — Celiac disease is present in about 3% of patients with iron-deficiency anemia, according to the results of a prospective trial published in the January issue of the Southern Medical Journal. The investigators recommend panendoscopy and screening for this treatable condition in unexplained cases.
"Occult celiac disease has been reported in 0 to 6% of adults presenting with iron-deficiency anemia," write Umaprasanna S. Karnam, MD, and colleagues from the University of Miami School of Medicine in Florida. "Most prior studies have been retrospective or screened only a selected population of patients with small bowel biopsies."

From 1998 to 2000, all patients seen at the University of Miami for iron-deficiency anemia, including those with hemoccult-positive stools, had esophagogastroduodenoscopy with small bowel biopsies and colonoscopy, including more than two biopsies of the distal duodenum. Iron-deficiency anemia was defined as serum ferritin less than 25 ng/mL and hemoglobin less than 12 g/dL for women and less than 14 g/dL for men.

Patients with documented prior erosive, ulcerative, or malignant disease of the gastrointestinal tract, previous gastrointestinal surgery, overt gastrointestinal bleeding within the past three months, or inability to access the duodenum for biopsy were excluded. Patients with a positive small bowel biopsy had a serum immunoglobulin A antiendomysial antibody test to confirm the diagnosis of celiac disease.

Of 139 consecutive patients with iron-deficiency anemia, 105 patients met the inclusion criteria and were enrolled, including 57 men (mean age, 51.6 years) and 48 women (mean age, 54.1 years). Demographic composition was 36 blacks, 38 Hispanics, 22 whites, and nine patients of mixed or unknown ethnic background. Hemoccult-positive stools were present in 40.9% of study subjects overall; in 43.8% of the men, and in 37.5% of the women.
Upper endoscopy revealed gastritis in 22.8% of the patients, gastric ulcers in 9.5%, duodenitis in 8.5%, esophagitis in 7.6%, Barrett's ulcer in 2.8%, duodenal ulcer in 2.8%, gastric polyp in 2.8%, and celiac disease in 2.8%. Colonoscopic findings were polyps in 21.9%, diverticula in 10.4%, and hemorrhoids in 16.1%. Multiple findings were present in 32.3% of patients, whereas 28.5% of patients had no findings.

"The prevalence of occult celiac disease in this prospective study of patients presenting with iron-deficiency anemia was 2.8%. A significant number of other gastrointestinal lesions amenable to therapy were also found on upper and lower endoscopy in these patients," the authors write. "Given the treatable nature of celiac disease, it should be screened for in patients with unexplained iron-deficiency anemia with or without hemoccult-positive stools."

                                                           South Med J. 2004;97:30-34

Os achados evidenciam a necessidade de pesquisar a doença em portadores de anemia por carência de ferro, com ou sem sangue oculto nas fezes.

Colaboração do Dr. Stefano Jorge


Diabetes: Younger Age at Onset and Sex Predict Celiac Disease in Children and Adolescents with Type 1 Diabetes

Celiac.com - 11/29/2004

        In an effort to determine the prevalence of biopsy-confirmed celiac disease in Italian children and adolescents with type 1 diabetes, and to determine whether age at onset of diabetes is independently associated with the diagnosis of celiac disease, Dr. Franco Cerutti and colleagues at the Universita di Torino, Italy looked at 4,322 children and adolescents (4-11 years old) who had type 1 diabetes. Yearly celiac disease screening was performed on them by using IgA/IgG anti-gliadin and IgA anti-endomysium antibodies, and those with positive antibody results were given a biopsy for confirmation. Out of 4,322 children screened 292 or 6.8% had celiac disease. In 89% of cases diabetes was diagnosed before celiac disease. Using logistic regression analyses the researchers determined that those diagnosed with diabetes at a younger age, those who are female, and those with a thyroid disorder are independently associated with the risk of having both diabetes and celiac disease.

         The researchers conclude: “We have provided evidence that 1) the prevalence of biopsy-confirmed celiac disease in children and adolescents with type 1 diabetes is high (6.8%); 2) the risk of having both diseases is threefold higher in children diagnosed with type 1 diabetes at age <4 years than in those age >9 years; and 3) girls have a higher risk of having both diseases than boys.”


Future Enzyme Treatment Possible for People with Celiac Disease

J Pharmacol Exp Ther. 2004 May 13
Piper JL, Gray GM, Khosla C. Stanford University.

Celiac.com  - 11/28/2004

            A study by researchers at Stanford University looked at the ability of Prolyl endopeptidase (PEP)--a specific type of enzyme--to break down gliadin peptides in a living organism--rats. In an effort to determine whether a resistance to the break down of proteins by proteases enzymes is the cause of toxicity of the Pro- and Gln-rich peptides, the scientists analyzed the digestive resistance of a panel of alpha and gamma-gliadin peptides that are believed to induce gluten toxicity--all of which happen to be very resistant to gastric and pancreatic protease digestion--but can be broken down by intestinal brush border peptidases. The researchers determined that supplementation of PEP substantially reduced the concentrations of these peptides, and they determined a pharmacologically useful PEP dosage. According to the researchers: “This data verifies and extends our earlier proposal that gliadin peptides, while resistant to proteolysis, can be processed efficiently by PEP supplementation. Indeed, PEP may be able to treat Celiac Sprue by reducing or eliminating such peptides from the intestine.”


Coeliac disease-associated antibodies correlate with psoriasis activity [In Process Citation]

Br J Dermatol 2004 Oct;151(4):891-4 (ISSN: 0007-0963)

Woo WK; McMillan SA; Watson RG; McCluggage WG; Sloan JM; McMillan JC
Department of Dermatology, Belfast City Hospital, Belfast, U.K.


Background Antigliadin antibodies (AGA) have been reported in patients with psoriasis. Objectives To determine if AGA and other coeliac disease (CD)-associated antibodies correlate with clinical features and activity in patients with psoriasis. Methods Patients with psoriasis (n = 130) were investigated for serum IgG and IgA AGA, IgA antitransglutaminase antibody and IgA antiendomysial antibody. Disease characteristics and associated bowel and joint symptoms were determined. All patients were invited to undertake endoscopy with duodenal biopsy. Results A significantly higher proportion of patients with elevated CD-associated antibody levels was currently on or had previously required systemic immunosuppressants (methotrexate, ciclosporin or etretinate; P = 0.04) or psoralen plus ultraviolet A phototherapy (P = 0.03). One case of CD was diagnosed. Conclusions The presence of CD-associated antibodies in psoriasis patients correlates with greater disease activity.  


Screening detects celiac before symptoms appear, but at older age

Celiac disease is increasingly being diagnosed through screening before the appearance of symptoms, but the average age of a patient at the first diagnosis has increased, according to a study presented at the annual meeting of the American College of Gastroenterology in Orlando, Fla., this month.

The study looked retroactively at 590 patients with celiac diagnosis confirmed by biopsy from 1952 to 2004.

Since 1980, patient age of diagnosis has increased from 30.5 to 42, and the number of cases diagnosed after significant diarrhea decreased from 91% to 37%.

Time from development of the disease to detection also decreased from 11 years before 1980 to four years now. The percentage of patients diagnosed after the development of a malignancy also decreased from nearly 22% before 1980 to just over 5% now.

"More are detected through screening," said S. Devi Rampertab, MD, lead author and a gastroenterologist at North Shore Long Island Jewish Health System in New York. "The majority of patients now present as 'silent' celiac disease."

Copyright 2004 American Medical Association. All rights reserved

News in brief - Nov. 15, 2004







Alice Alimentos Finos


   Links Importantes


www.acelbra.org.br                 www.acelbra-rs.org.br 

www.acelbra-sc.org.br        www.unb.br/fm/celiacos


Última atualização: 24 abril, 2005 .