Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Use
The Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel analyzes genes associated with abnormalities in the kidneys and urinary tract structures such as the bladder, ureters, and urethra. These congenital disorders vary in severity and can sometimes remain undetected until later stages of life. The panel helps in confirming diagnosis, guiding treatment decisions, and assessing recurrence risks. Genetic heterogeneity in these conditions makes single phenotype-based diagnosis challenging, thus broad testing allows for a more efficient evaluation. The goal is to identify disease-causing variants, inform genetic counseling, and facilitate management decisions.
Special Instructions
Genetic testing of these genes can confirm a diagnosis which in turn may help with recurrence risk assessment and provide better management and treatment guidance. The test is customizable by allowing selection of specific genes to include or exclude.
Limitations
The assay achieves over 99% analytical sensitivity and specificity for single nucleotide variants, insertions, deletions <15bp, and exon-level events. However, variability exists for detecting larger indels, structural rearrangements, and certain variants in complex sequences. Not all non-coding regions and detailed variant characteristics like mosaicism or phasing may be fully resolved. Rare failures may occur due to sequence properties or data quality, particularly for single-exon events.
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
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)