PKHD1 Deletion/Duplication only

Test Information
Test Name PKHD1 Deletion/Duplication only
Lab (Location) Mount Sinai Hospital
Category Renal
Subcategory Polycystic Kidney Disease
Gene/Platform/Region List PKHD1
Test type Single Gene
Samples Accepted Blood, DNA
Indications Diagnosis Diagnosis, Carrier / Cascade Testing
Test Methodology MLPA
Diseases/Conditions Polycystic Kidney Disease Autosomal Recessive (ARPKD), adult polycystic kidney disease (APKD)