Table 4.

Diagnostic yield in the national KidGen cohort stratified by clinical diagnosis

Clinical diagnosis	Sequencing performed number of patients	Positive results number of patients	Diagnostic yield percent
Alport syndrome	206	127	61.7
Tubular disease	134	74	55.2
Cystic kidney disease	506	256	50.6
Glomerular disease	50	19	38.0
Other	122	45	36.9
Complement-mediated	89	26	29.2
Nephrotic disease	142	41	28.9
CAKUT	73	18	24.7
Totala	1322	606	45.8

CAKUT, congenital anomalies of the kidney and urinary tract-syndromic; DY, diagnostic yield (was calculated using the formula: DY = (PR / [PR + NR + VUS] × 100) and is expressed in percent (%); NR, negative result; PR, positive result; VUS, a variant of unknown significance.

^aTest results were unknown for 59 patients by the end of the 2022 cut-off.