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Urolithiasis, Genetic Testing

Urolithiasis is the formation of stones (uroliths) in the urinary tract. These stones can cause pain and can block the flow of urine. Treatment options include pain management, hydration, and, in some cases, procedures or surgery to remove or break down the stones. The assessment of the Polygenic Risk Score for urolithiasis is based on the examination of 30 gene polymorphisms.

Genetic testing for urolithiasis is included along with 13 other diseases in the Genetic Screening for Endocrine and Genitourinary Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

Kidney stones usually occur in concentrated urine or due to excess substances that may promote their appearance, such as calcium, oxalate, or uric acid, but predisposing factors may be multiple. These include:

  • It is more frequent in men than in women
  • Family or personal history. Having a family member affected or having had a previous episode may increase the risk
  • Low water consumption. Not drinking enough water or living in hot, dry climates that increase sweating can lead to more concentrated urine and increased risk
  • Consumption of foods high in protein, salt and sugar
  • Obesity
  • Digestive diseases like inflammatory bowel disease or chronic diarrhea can affect water absorption, increasing the risk
  • Consumption of certain supplements and medications, such as vitamin C, laxatives, or certain medications used to treat depression and migraine

Most commonly, kidney stones are associated with colicky pain that appears when the stone obstructs the normal flow of urine. It is a sharp pain that is localized in the lumbar area but can irrigate the groin and even, in the case of males, affect the testicle on the same side. Other signs and symptoms that may appear are blood in the urine.

Sometimes the pain is mild or even painless, depending on the type, size, shape, and location.


The presence of stones in the urinary tract is one of the most frequent urological pathologies. Prevention involves avoiding risk factors, with recommendations such as the following:

  • Drink plenty of water throughout the day and reduce salt consumption
  • Moderate consumption of animal proteins
  • Avoid foods rich in oxalate, especially for people who tend to accumulate this compound. These foods include coffee, cocoa, spinach, strawberries, tea, nuts, and wheat.
  • Taking medications may be helpful for those with a tendency to develop stones, which may vary depending on their composition, so it is essential to consult a doctor.
Additional information
Results Time4 - 5 Weeks
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