Version June 2024
| Test | Frequency | |
| Blood chemistry | Renal function tests: BUN, creatinine, electrolytes (Na, K) | Every six months unless abnormal |
| Liver function tests: ALT, AST, ALP, bilirubin, albumin | Every six months unless abnormal | |
| Bone profile: Ca, P, albumin, ALP, Vit D, PTH | Every six months unless abnormal | |
| Trace elements: Zn, selenium, Mg, Cu, Ag | Annually unless abnormal | |
| Vitamins (B1, B2, B3, B12, C, A) | Annually unless abnormal | |
| Total iron-binding capacity or transferrin, serum iron, ferritin, soluble transferrin receptor | Every three to six months depending upon degree of anemia and iron or transfusion requirements | |
| Urine dipstick test, protein and blood | At each visit | |
| 24-hour urine collection for albumin/creatinine ratio, protein excretion, creatinine clearance | If renal function test is abnormal | |
| Hematology | Full blood cell count | Every three to six months depending upon the degree of anemia |
| Red cell folate, serum folate | Annually | |
| Radiology | Radiograph: lateral thoracic and lumbar spine | Annually from the age of four years |
| Whole spine dual energy radiograph absorptiometry (DEXA) scan | Annually | |
| Radiograph of left hand | If evaluation of bone age is indicated | |
| Echocardiogram for heart muscle | Annually from the age of two years | |
| Renal ultrasound for ureteric effects | Annually in patients with JEB and JEB-PA | |
| Microbiology | Wound swab | If with clinical evidence of infection |
| Urine culture | If with positive dipstick | |
| Endocrinology (in cases of pubertal delay) | Female: LH, FSH, estradiol; pelvic ultrasound to assess ovaries and uterus if indicated | As required for delayed puberty |
| Male: LH, FSH, testosterone | ||
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