Diagnosis of Hyperoxaluria and Oxalosis
A comprehensive evaluation including a physical examination, medical history, family history, diet and medication history is recommended. Depending on symptoms, patients may have one or more of the following tests to measure the presence and level of oxalate in the body:

• Urine and blood testing
  Patients provide blood and urine samples which are analyzed for chemical content, including oxalate, glycolate and glycerate. Blood samples may also be tested for DNA changes known to cause primary hyperoxaluria.  
  
  
• X-ray
  An X-ray of the kidneys can help to reveal if the oxalate has caused kidney stones or calcium oxalate deposits.  
  
  
• Ultrasound of the kidneys and bladder
  Ultrasound uses high-frequency radio waves and computer processing to provide an internal view of the kidneys and urinary tract.  
  
  
• Computerized tomography (CT) scan
  A series of thin X-ray beams produces two-dimensional, highly detailed images of the kidneys and urinary tract.  
  
  
• Liver or kidney biopsy
  If the urine analysis, X-ray or other tests indicate the patient may have primary hyperoxaluria, a biopsy can help confirm the diagnosis. During this procedure, the patient has local anesthesia and a needle is inserted under the skin and into the liver or kidney to collect a small sample of liver or kidney tissue. Liver tissue is analyzed for enzyme deficiencies, and the kidney tissue is analyzed for oxalate deposits.  
  
  
• Echocardiogram
  This ultrasound test can show abnormal deposits of oxalate in the heart.  
  
  
• Eye examination
  An ophthalmologist will determine whether oxalate is being deposited in the eyes.  
  
  
• Bone marrow biopsy
  In patients who have kidney failure, a bone marrow biopsy can determine if the bones have oxalate deposits and if the patient has oxalosis.  
  
  
• Family screening
  If primary hyperoxaluria is suspected or confirmed, the brothers and sisters of a patient should be tested. The biological parents of a child with primary hyperoxaluria may wish to consider genetic testing if the mother becomes pregnant again.  
  
  
• Diagnosis of Primary Hyperoxaluria
  A definitive diagnosis of Type I and Type II can be made by measuring the level of AGT and GR through a liver biopsy. In some situations, the diagnosis can be made by testing DNA for mutations known to cause primary hyperoxaluria.  
  
  
• Prenatal diagnosis
  Analysis of DNA changes causing PH (mutations) can be obtained by an amniocentesis or chorionic villous sampling. If mutational analysis in not available, prenatal diagnosis can be carried out by linkage analysis in suitable families. 
  
  

Tests such as blood levels of oxalate, urine or blood levels of glycolate or glycerate, liver biopsy enzyme analysis, and DNA testing are not widely available and can only be arranged by a few selected laboratories.

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