Test Code: PNL212

Genes: DNAJB11, DZIP1L, FCYT, GANAB, HNF1B, LRP5, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, TSC1, TSC2, UMOD, VHL (16 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing.

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1800

Description:
PKD is primarily due to PKD1/PKD2/PKHD1, but the extended differential diagnosis includes 13 additional genes (total 16) spanning cystic kidney syndromes, ciliopathies, and tubulointerstitial diseases. Recognizing these helps tailor surveillance and management beyond the kidneys.