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<IndexPatientGuideline ID="x23146" Name="Guideline Statement 7" IsComponent="true" Changed="20260727T15:04:36" Created="20260715T18:25:42" Published="20260730T08:52:56" SiteBaseUrl="https://www.auanet.org" Locale="" XPowerPath="/Home/Guidelines &amp; Quality/Guidelines/Clinical Guidelines/Medical Management of Kidney Stones/Diagnosis/Guideline Statement 7">
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  <Header type="string" UID="faf9fd2842b549d09e761cd943c2be20" label="Header" readonly="false" hidden="false" required="false" indexable="false" CIID="">Guideline Statement 7</Header>
  <BodyCopy type="xhtml" UID="41a2d8598c364193bbfe9ad86d7bcd3c" label="Body Copy" readonly="false" hidden="false" required="false" indexable="false" Height="" CIID="">&lt;p&gt;&lt;strong&gt;Clinicians may offer genetic testing to adult and pediatric patients with kidney stones who have an extensive family history of stone disease, nephrocalcinosis, rare stone composition, or frequent stone recurrence. (&lt;em&gt;Expert Opinion&lt;/em&gt;)&lt;/strong&gt;&lt;/p&gt;</BodyCopy>
  <DiscussionLinkName type="string" UID="b364402056154f78b38cd8d663eaf3ba" label="Discussion Link Name" readonly="false" hidden="false" required="false" indexable="false" CIID="">Discussion</DiscussionLinkName>
  <DiscussionTitle type="string" UID="ceedafe4ad314b5d8d3225bc0083b81c" label="Discussion Title" readonly="false" hidden="false" required="false" indexable="false" CIID="">Discussion</DiscussionTitle>
  <DiscussionBody type="xhtml" UID="9bbbac02721d4eefba59c63ee7ff9007" label="Discussion Body" readonly="false" hidden="false" required="false" indexable="false" Height="" CIID="">&lt;p&gt;While there are no specific treatments to date for most pathologic variants identified in association with stone disease, the selective integration of genetic testing within a multidisciplinary care framework may prove to be helpful. Substantial evidence demonstrates that heritable factors significantly contribute to the risk of kidney stones, with heritability estimates approaching 50%.&lt;sup&gt;119&lt;/sup&gt; Genetic evaluations, including next generation sequencing and genome-wide association studies, have identified more than 40 monogenic causes recognized in association with kidney stone formation.&lt;sup&gt;120&lt;/sup&gt; Patients with stone types such as 2,8-dihydroxyadenine and xanthine would benefit from genetic evaluation. Genetic testing has the potential to alter treatment plans in some cases, such as for those with primary hyperoxaluria.&lt;/p&gt;
&lt;p&gt;There are no strict age limits with regard to who should undergo genetic testing. However, the probability of monogenic disorders is higher in patients with early-onset kidney stone disease (26% in pediatric kidney stone clinics).&lt;sup&gt;121&lt;/sup&gt; In adults, kidney stone disease may be an early harbinger of more complex diseases. Thus, genetic testing may inform long-term management plans and prove to be clinically meaningful in select patients when routine metabolic evaluation and stone analysis fail to identify an etiology. Genetic testing should be considered in patients with clinical features suggestive of hereditary kidney stone disease including patients with very early onset disease (e.g., pediatric patients), particularly those with CKD, to confirm a diagnosis suggested by metabolic testing and for which specific medical management exists (e.g., primary hyperoxaluria). Likewise, those with systemic manifestations of known or suspected genetic syndromes, as well as adult and pediatric patients with multiple, frequently recurrent or bilateral stones, nephrocalcinosis, or a strong family history of stones may benefit from genetic testing. Note that recurrent disease here refers to unusual and highly aggressive stone formation based on clinician judgment.&lt;/p&gt;
&lt;p&gt;Incorporating gene panel testing into the comprehensive metabolic evaluation for these high-risk patients may refine diagnosis, guide targeted therapy, support stone recurrence prevention strategies, and facilitate appropriate familial counseling. Genetic testing can be performed using either a comprehensive kidney gene panel or a targeted panel with selection guided by stone type, associated serum and urine abnormalities, and other clinically suggestive findings. Clinicians may discuss with patients the possibility of referral for genetic testing based on the risks and benefits of testing. Genetic counseling, referral centers, and clinician experts can be utilized to help facilitate pre- and post-test counseling, diagnosis, and treatment of motivated patients for genetic counseling.&lt;/p&gt;</DiscussionBody>
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