# Blood: Routine hemogram along with blood sugar, urea, and creatinine. # Urine: For cystine crystals, and casts. The most specific test is the cyanide–nitroprusside test # Ultrasound/CT scan to reveal if a stone is present. # Genetic analysis to determine which mutation associated with the disease may be present. Currently genotyping is not available in the United States but might be available in Spain, Italy, UK, Germany and Russia (by private companies in Germany and Russia). Regular X-rays often fail to show the cystine stones, however they can be visualized in the diagnostic procedure that is called intravenous pyelogram (IVP). Stones may show up on XR with a fuzzy gray appearance. They are radioopaque due to sulfur content, though more difficult to visualize than calcium oxalate stones.
Cystinuria
Xanthinuria
Aminoaciduria
Uricosuria
Iminoglycinuria
Hyperuricosuria
Renal glycosuria
Lipiduria