Celiac Genetics

  • Analyzes a patient’s genetic profile for disease risk stratification
  • Only Prometheus genetic testing quantifies the relative risk of disease for every patient
  • A negative predictive value (NPV) of 95% to 100% allows for ruling out celiac disease for life1

Now You Can Asses Your Patients’ Risk

Category NumberDQ Genotype CategoryIncreased Risk Over General Population2,3Relative Risk
8DQ2 homozygous31xExtremely High
7DQ2/other high-risk gene16xVery High
6DQ2/DQ810xVery High
5DQ8 homozygous10xHigh
4DQ2 heterozygous10xHigh
3DQ8 heterozygous2xModerate
2DQ2/other low-risk gene<1xLow
1DQ2-, DQ8-<0.1xExtremely Low


Most celiac patients carry either the DQ2 haplotype (about 95% of celiacs) or the DQ8 haplotype (about 5% of celiacs). There are two DQ2 haplotypes, but only one DQ8 haplotype—specific combinations may confer different risks for the development of celiac disease, as shown above.

Research advises ordering full HLA-DQA1 and DQB1 typing and should also have other clinical correlates including positive serology (gluten challenged) with or without abnormal duodenal biopsy.

References:
1.Kaukinen K, Partanen J, Mäki M, Collin P. HLA-DQ typing in the diagnosis of celiac disease. Am J Gastroenterol. 2002;97(3):695-699.
2. Pietzak M, Schofield T. HLA-DQ2 homozygotes are associated with a 31-fold increased risk of EMA positivity in a large sample of sera (n = 4152) from patients at risk for celiac disease [DDW abstract]. Gastroenterology. 2007;132(7):2585.
3. Fasano A, Berti I, Gerarduzzi T, et al. Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med. 2003;163(3):286-292.

Sample insurance correspondence for PROMETHEUS® Celiac Genetics

Celiac Plus

Provides More Comprehensive, Accurate Answers

PROMETHEUS Celiac PLUS combines serologic and genetic testing in one convenient test

  • Comprehensive serum antibody profile combines 5 serological markers (IgG, IgA, tTG, EMA and total serum IgA)
  • Only Prometheus genetic testing quantifies the relative risk of disease for every patient
  • A negative predictive value (NPV) of 95% to 100% allows for ruling out celiac disease for life1

Now You Can Asses Your Patients’ Risk

Category NumberDQ Genotype CategoryIncreased Risk Over General Population2,3Relative Risk
8DQ2 homozygous31xExtremely High
7DQ2/other high-risk gene16xVery High
6DQ2/DQ810xVery High
5DQ8 homozygous10xHigh
4DQ2 heterozygous10xHigh
3DQ8 heterozygous2xModerate
2DQ2/other low-risk gene<1xLow
1DQ2-, DQ8-<0.1xExtremely Low


Most celiac patients carry either the DQ2 haplotype (about 95% of celiacs) or the DQ8 haplotype (about 5% of celiacs). There are two DQ2 haplotypes, but only one DQ8 haplotype—specific combinations may confer different risks for the development of celiac disease, as shown above.

Research advises ordering full HLA-DQA1 and DQB1 typing and should also have other clinical correlates including positive serology (gluten challenged) with or without abnormal duodenal biopsy.

References:
1. Kaukinen K, Partanen J, Mäki M, Collin P. HLA-DQ typing in the diagnosis of celiac disease. Am J Gastroenterol. 2002;97(3):695-699.
2. Pietzak M, Schofield T. HLA-DQ2 homozygotes are associated with a 31-fold increased risk of EMA positivity in a large sample of sera (n = 4152) from patients at risk for celiac disease [DDW abstract]. Gastroenterology. 2007;132(7):2585.
3. Fasano A, Berti I, Gerarduzzi T, et al. Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med. 2003;163(3):286-292.

Sample insurance correspondence for PROMETHEUS® Celiac Plus