Test Code 186

Autosomal Dominant Polycystic Kidney Disease (ADPKD) via Sanger Sequencing of PKD1

PKD1

3 - 4 weeks (12 - 19 days STAT)

Who is this test for?	Individuals with a clinical or suspected diagnosis of autosomal dominant polycystic kidney disease (ADPKD) whose PKD1 testing by next-generation sequencing (NGS) was negative or indeterminate, but with the possibility of gene-conversion events due to the existence of pseudogenes (homologous sequences) that could be missed by NGS-based tests Individuals or fetuses with very early onset PKD (VEO-PKD) mimicking autosomal recessive polycystic kidney disease (ARPKD) whose PKD1 testing by NGS was negative or indeterminate Individuals with a family history of ADPKD who are being evaluated as potential kidney donors whose PKD1 testing by NGS was negative or indeterminate
Method	Sanger Sequencing
Specimen(s)	Blood, Buccal, Saliva, Tissue

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