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Test Code 2058

Autosomal Dominant Polycystic Kidney Disease via MLPA of PKD1

PKD1

2 - 3 weeks (6 - 11 days STAT)

Who is this test for?
  • Individuals with a clinical or suspected diagnosis of autosomal dominant polycystic kidney disease (ADPKD) especially when the sequencing test is negative
  • Individuals with a clinical or suspected diagnosis of TSC2/PKD1 contiguous gene deletion syndrome
  • Family members of individuals with known copy number variants (deletions or duplications) affecting PKD1
Method
Multiplex Ligation-Dependent Probe Amplification Assay
Specimen(s)

Blood, Buccal, Saliva

Order Options

OTHER OPTIONS
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