Autosomal Recessive Polycystic Kidney Disease (ARPKD) Panel
Use
This test is intended for individuals with a clinical or suspected diagnosis of autosomal recessive polycystic kidney disease (ARPKD), and for individuals with a family history of presumed ARPKD without previous genetic testing. ARPKD is a genetic disorder primarily affecting the kidneys and sometimes the liver. Early diagnosis can help in management and treatment decisions.
Special Instructions
Ensure proper specimen type is provided as per platform requirements. Exome platform accepts blood, DNA, buccal, saliva, or tissue, while the genome platform requires blood or DNA. Special handling may be needed based on specimen type.
Limitations
While this panel is comprehensive, it is limited to the three genes associated with ARPKD. Variant detection accuracy may be affected by the quality of the sample provided. The test does not include checking for non-genetic causes or other kidney-related genetic disorders not included in the panel.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided