Genetic Test Details | Ontario Health

PKHD1 Deletion/Duplication only

Test Information

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

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