Coding Rules Current as at 18-Oct-2016 08: 31

Published 15 June 2015,
for implementation 01 July 2015.

Ref No: Q2949 | Published On: 15-Jun-2015 | Status: Current

SUBJECT: Positive coeliac gene test

Q:

What is the correct code to assign for a patient with a positive coeliac gene test without:

1. 
   any signs or symptoms of coeliac disease
   
2. 
   history of coeliac disease and
   

1. 
   histological confirmation from endoscopic biopsy of small bowel? 
   

A:

While 99% of patients with coeliac disease have a positive test for HLA DQ2 and/or HLA DQ8 genes, only 1 in 30 people with a positive test for these genes develop coeliac disease. A positive gene test only indicates susceptibility to the disease which means the individual is at risk for developing coeliac disease. Therefore, a positive coeliac gene test should not be regarded as an abnormal result or a sign/symptom of coeliac disease.

It is appropriate to follow the guidelines in ACS 2111 Screening for specific disorders and assign Z13.83 Special screening for examination for digestive tract disorder as individuals with a positive coeliac gene test are asymptomatic and they are being screened for coeliac disease, but it is not detected or has never been detected.

References:

Coeliac Australia (2014). Gene testing (HLA genes). Retrieved from http://www.coeliac.org.au/diagnosis/

The University of Chicago, Celiac Disease Centre (2014). Genetic testing. Retrieved from http://www.uchospitals.edu/pdf/uch_007936.pdf