Autosomal Dominant Polycystic Kidney Disease via MLPA of PKD1
Use
This test is intended for individuals with a clinical or suspected diagnosis of autosomal dominant polycystic kidney disease (ADPKD), particularly when previous sequencing tests have not identified a mutation. It is also applicable to individuals suspected of having TSC2/PKD1 contiguous gene deletion syndrome, as well as family members of individuals with known PKD1 copy number variants such as deletions or duplications.
Special Instructions
Not provided.
Limitations
The Multiplex Ligation-Dependent Probe Amplification (MLPA) assay is specifically designed to detect copy number variations, such as deletions and duplications, in the PKD1 gene. However, it cannot detect all possible mutations. Single nucleotide variants or other types of mutations outside the assay's scope may go undetected. Test results should be interpreted in the context of clinical findings, family history, and other laboratory data.
New York Approved
Methodology
Other (Multiplex Ligation-Dependent Probe Amplification Assay)
Biomarkers
PKD1
Gene
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