Useful Resources: Celiac Disease Genetic Testing

I have recently become interested in the Genetic Testing available for Celiac Disease. All members of my family, including my parents, had negative test results for the Antibody screening blood tests. In a search to find out where my Celiac Disease came from, the only answer may be to conduct some genetic testing of my family members.

Genetic testing should look at a person's genes (HLA-class II complex) for DQ2 and DQ8 haplotypes. If they exist, the person CAN develop Celiac Disease in the future (they are placed in an at-risk category but this is not an indicator for actually developing CD). If they do not exist, Celiac Disease can be ruled out. People do not have to be ingesting Gluten for the gene tests to show DQ2/DQ8 presence (Antibody tests require the person to be ingesting Gluten). Note - it is estimated that 35% of Americans have either DQ2 or DQ8. The results of the test can help trace who has the genes for developing CD in a case like mine where all family members were negative for Antibody testing. In addition, it would also be useful for testing small children of Celiac sufferers which in turn can allow parents to identify which children to watch more closely.

I read through the following Web sites (University of Chicago Celiac Disease Center & Celiac.com) during my research. I found the companies listed below and have spoken with each of them about their Genetic tests available. I would recommend these 2 companies because their tests offer complete alpha and beta subunit genetic testing (as noted in the Celiac.com article). For small children, Kimball Genetics offers their DNA test with the option of a cheek swab instead of blood sample. Another lab called Enterolab in Dallas, Texas also offers Celiac Genetic Testing but does not analyze the beta subunit which can lead to an incomplete result set.

Kimball Genetics Denver, Colorado
-Offers a Celiac DNA Test via cheek swab or blood sample
-Test costs around $400 and might be covered by Insurance (call to verify)
Use the following CPT Codes when calling Insurance
(83891, 83896(X72), 83900, 83912-26, 83901(X2))
-Call 1-800-320-1807 to request your free Test Kit which includes all information
-Results are sent to a doctor (form included in Test Kit)
-Kimball will submit to insurance company for reimbursement (form included in Test Kit)

Prometheus Labs San Diego, California
-Offers a Celiac Genetics Test via blood sample only
-Test costs around $500 and might be covered by Insurance (call to verify)
Use the following CPT Codes when calling Insurance
(83891, 83900(X2), 83896(X72), 83912)
-You may be eligible for a 35% discount (call for details)
-Call 1-888-423-5227 for more information
-Tests must be ordered through a doctor
-Results are sent to a doctor
-Prometheus will submit to insurance company for reimbursement

You can also call The University of Chicago Celiac Disease Center Hotline at 1-773-702-7593 for more information about Genetic Testing for Celiac Disease.