Question 1

Purpose of the Screening

Accepted Answer

Confirm the diagnosis of hereditary Cystinuria. Identify specific genetic mutations causing recurrent stones. Guide physicians in selecting the most effective preventative medications. Screen family members at risk of inheriting the condition.

Question 2

Who Should Get Tested?

Accepted Answer

Patients with recurrent bladder or kidney stones. Children or young adults presenting with early-onset stones. Individuals with a known family history of cystinuria. Patients who do not respond to standard stone prevention treatments.

Question 3

Understanding Results

Accepted Answer

Positive Result: Confirms the presence of a pathogenic mutation. Negative Result: No mutations found in SLC3A1/SLC7A9; further testing may be needed. Clinical Guidance: Provides a basis for personalized diet and drug therapy.

Genetic Screening for Recurrent Cystinuria - Genetic Screening for Cystinuria (SLC3A1 & SLC7A9)