If the Tg-IgA is positive (>10 ULN), HLA DQ2/8 analysis is not recommended in the ESPGHAN guidelines 2020. Due to the variability in presentation, it becomes hard for a clinician to diagnose celiac disease, and hence, all causes of unexplained diarrhea, weight loss, anemia, short stature, enamel issues, and laboratory abnormalities need to be screened for celiac disease. The gene discussed is CD79A; the disease is anemia (phenotype).