Celiac
Combines serologic, genetic, and inflammation markers to help identify active celiac disease and stratify relative risk.
PROMETHEUS® Celiac PLUS is the only celiac test that combines serologic and genetic testing in one convenient test. Genetic testing detects genes specific to celiac disease (DQ2/DQ8).
The absence of these genes and a negative predictive value (NPV) of 95% to 100% allows celiac disease to be ruled out for life1.
The presence of these genes includes an estimate of patient risk, from extremely low to extremely high, according to individual genetic makeup.
- Most 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 below.
NOW YOU CAN ASSESS YOUR PATIENTS’ RISK |
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Category Number
|
DQ Genotype Category
|
Increased Risk Over
General Population2,3 |
Relative Risk
|
|
8
|
DQ2 homozygous
|
31x
|
Extremely high
|
|
7
|
DQ2/other high-risk gene
|
16x
|
Very high
|
|
6
|
DQ2/DQ8
|
10x
|
Very high
|
|
5
|
DQ8 homozygous
|
10x
|
High
|
|
4
|
DQ2 heterozygous
|
10x
|
High
|
|
3
|
DQ8 heterozygous
|
2x
|
Moderate
|
|
2
|
DQ2/other low-risk gene
|
< 1x
|
Low
|
|
1
|
DQ2-, DQ8-
|
< 0.1x
|
Extremely low
|
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 positivety 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.
PROMETHEUS Celiac Plus is a laboratory-developed test that was developed and validated under federal Clinical Laboratory Improvement Amendments (CLIA) laboratory guidelines, and is performed exclusively by Prometheus Laboratories Inc.
It has not been cleared or approved by the US FDA. The test is used for clinical purposes and should not be regarded as investigational or for research. Prometheus Laboratories Inc is certified under CLIA as qualified to perform high-complexity clinical laboratory testing and is accredited by the College of American Pathologists (CAP).
This material is provided for general information purposes only, as an educational service for healthcare physicians and their patients. It is not intended as a substitute for medical advice and/or consultation with a physician.