*Purpose: Next-generation sequencing (NGS) renal gene panel testing recently became available for clinical use. Literature on utilizing this during kidney transplant evaluation is limited. Here we report a single center experience from Texas, USA.
*Methods: In 2021, our transplant center started utilizing NGS renal gene panel testing (Renasight^TM) for patients with unclear etiology of kidney disease. Patients with known polycystic kidney disease (PKD) based on clinical and ultrasound criteria with a kidney donor under evaluation were also tested. We retrospectively analyzed results of the first 100 consecutive unique patient samples.
*Results: Of 100 patients, 46 patients were female and 54 were male. 49 were Caucasian, 23 were African American, 21 were Hispanic, 5 were mixed ancestry/others and 2 were Asian. Median age was 44 years (range 20-74). Pathogenic or likely pathogenic variants were identified in 28 (28%) patients, carrier variants in 29 (29%) patients, variants of uncertain significance in 38 (38%) patients and none in 5 (5%) patients. Of 28 patients that had pathogenic or likely pathogenic variants, most common genes were APOL1 (n = 8) and COL4A3/COL4A4/COL4A5 (n = 6). A few unexpected diagnoses were identified, including transthyretin related amyloidosis, renal hypouricemia, cystinuria, IPEX syndrome, and papillorenal syndrome. One patient was noted to have a variant in RET gene that led to workup for possible multiple endocrine neoplasia type 2 and underwent prophylactic thyroidectomy despite no thyroid symptoms or exam findings with pathology revealing thyroid cancer. Two patients with PKD1 mutation had young relatives that tested negative for PKD1 mutation and hence approved for living kidney donation.
*Conclusions: Utilizing a NGS renal gene panel testing during kidney transplant evaluation for patients with unclear etiology of kidney disease has a high yield with potential clinical impact on peri-transplant management. For patients with known genetic kidney disease, this might also aid in selection of living related kidney donors.

Sridhar Allam

Tarrant Nephrology Associates/PPG Health

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