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. Author manuscript; available in PMC: 2023 Jul 21.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2022 Sep 26;190(3):289–301. doi: 10.1002/ajmg.c.32004

TABLE 3.

Referral and clinical information of the kidney genetics clinic patient population

Clinical indication and diagnostic yield
n % Diagnostic yield (%)
CAKUT 8 2.9 25.0%
Tubulointerstitial disease 26 9.3 15.4%
Alport spectrum disorder 49 17.6 38.8%
Focal segmental glomerulosclerosis (FSGS) 37 13.3 10.8%
Tubulopathy/electrolyte disorder 28 10.0   3.6%
Cystic kidney disease 35 12.5 42.9%
Hematuria 14 5.0 35.7%
Proteinuria/nephrotic syndrome 31 11.1 19.4%
Complement dysregulation 12 4.3   0.0%
Tumor/cancer 5 1.8   0.0%
CKD of unknown etiology 29 10.4 10.3%
Healthy relative 32 11.5 12.5%
Other (Hypertension, diabetes) 12 4.3   8.3%

Note: Patients with a clinical indication and percentage they make up of the total cohort. Diagnostic yield in patients with that clinical indication. Patients can have multiple clinical indications.