Are there instances when you recommend kidney stone disorder gene testing in patients suspected of having cystinuria?
1 Answers
Mednet Member
Nephrology · Mayo Clinic
If the patient has a stone analysis showing pure cystine, I consider that proof positive of homozygous cystinuria and do not recommend genetic testing for the patient. However, I suggest that first degree relatives get genetic testing for cystinuria, and, if homozygous, I recommend preventive treatm...