Invitae Cystic Kidney Disease Panel
Use
This genetic test evaluates 44 genes associated with cystic kidney diseases, including Alport syndrome, FSGS, and nephrotic syndrome. It is used for diagnosing hereditary renal conditions by providing a broad overview of potential genetic causes. The test's comprehensive nature allows for detecting a range of genetic variations, helping to pinpoint the genetic basis of these heterogeneous disorders when phenotype alone lacks clarity.
Special Instructions
This panel currently excludes the PKD1 gene, which accounts for the majority of autosomal dominant polycystic kidney disease cases. Additional testing for PKD1 should be considered if clinically necessary.
Limitations
The assay achieves >99% analytical sensitivity and specificity for most single nucleotide variants and is reliable for insertions/deletions <15bp. Larger insertions/deletions may have reduced sensitivity. It does not detect structural rearrangements or variants in complex sequences. Single-exon copy number events might not be covered if the sequence properties are complex. Promoter regions and other specific non-coding regions are not included unless guaranteed.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant