Clinical Context
A 28-year-old patient with a family history of early-onset end-stage renal disease and multiple relatives with cystic kidney disease presents to a nephrology clinic after persistent proteinuria and declining estimated glomerular filtration rate (eGFR). The nephrologist obtains informed consent for genetic testing to clarify etiology, guide prognosis, and inform family counseling. A saliva specimen is collected in clinic using the manufacturer-approved collection kit and shipped to Personalized Medicine Care Diagnostics. Laboratory performs next-generation sequencing of 449 genes on the RenaDx™: Comprehensive Renal Disease Panel (reportable under 0628U). Results are returned as pathogenic or likely pathogenic variants, variants of uncertain significance (VUS), or risk alleles. The clinic receives the report, incorporates findings into the patient’s problem list, and documents genetic counseling and family testing recommendations in the electronic medical record. Typical site of service includes outpatient nephrology clinics or specialty genetic counseling centers; sample collection may occur in clinic or at home with courier return to the performing lab.
Related CPT Codes
| CPT Code | Description | Relationship to This Procedure |
|---|
0628U | RenaDx™: Comprehensive Renal Disease Panel Test — next-generation sequencing of 449 genes; saliva specimen | Primary reporting PLA code for the performed renal genetics assay; identifies pathogenic/likely pathogenic variants, VUS, and risk alleles. |
81479 | Unlisted molecular pathology procedure | Used cautiously when a specific PLA code is not available or for supplemental molecular testing not captured by 0628U.
81161 | Exome sequencing, interpretation and report of single gene(s) or genomic region (if applicable) | May be used if targeted exome or custom gene analysis outside the PLA is required as follow-up (billing depends on payer rules).
89240 | Microbiologic culture, specimen handling and transport (specimen collection code) | If a separate specimen collection service or courier handling is billed by the clinic (most labs include collection in test price).
99401 | Preventive medicine counseling, individual, 15 minutes (historical example of counseling codes) | Representative of evaluation and counseling services by genetic counselor or clinician documented in the visit note; exact code selection depends on payer and encounter type.