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Test Identifier Information

 
Registration CodeDQ28
Method

This molecular genetic test uses the Euroimmun HLA-DQ2/DQ8 reverse dot blot array to determine the status of the disease-associated HLA-DQA1 and HLA-DQB1 alleles in a patient with possible celiac disease.

Diagnostic Use / Indications

Raised TTG, with symptoms of celiac disease.

External Price$51.38(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Reference Interval

The array assay enables reporting of the isoforms of DQ2 (DQ2.2 & DQ2.5) as well as DQ8. DQ2.5 is the isoform mentioned in the ESPGHAN guidelines and referred to as DQ2.

Interpretation

HLA-DQ2/DQ8
CD has a significant genetic component. Within families there is a concordance of between 8-18%. When siblings are HLA identical concordance rises to between 30-50%, increasing to about 70% in monozygotic twins. CD has been found to have one of the strongest associations with the MHC locus of any disease. In fact for most populations with a northern European background around 90-95% have the HLA-DQ2 heterodimer with 5-10% having the HLA-DQ8 heterodimer.

Despite this close association, the fact that 30% of the Caucasian population have the HLA-DQ2 phenotype means that the risk of developing CD for those who are HLA-DQ2 positive is only 0.5%. Therefore it appears that the presence of these HHC DQ heterodimers is probably necessary but not sufficient for the development of CD.

We are now able to type for these "coeliac associated" HLA DQ alleles by PCR which will enable clinicians to identify those patients whose "genetic risk" of coeliac disease is very low. If they also have negative coeliac serology and have no clinical symptoms then biopsy may be avoided.

Delphic Number Test Number7032

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