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Test Code: PNL212

Polycystic kidney disease and its differential diagnosis, extended (16 Genes)

Multigene
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.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing

Genes Analyzed

16 genes
DNAJB11 DZIP1L FCYT GANAB HNF1B LRP5 PAX2 PKD1 PKD2 PKHD1 PRKCSH SEC63 TSC1 TSC2 UMOD VHL

Methodology

Capture-based target enrichment and Next Generation Sequencing.
Test Actions
Specifications
  • Test Code PNL212
  • Category Multigene
  • Sample 3 ml peripheral blood in EDTA (purple/pink top) tube
  • TAT 3 weeks days
  • Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
  • Genes 16 genes analyzed
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