Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel
Use
This test is intended for individuals who have been clinically diagnosed or are suspected to have Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT). It is also suitable for individuals who present symptoms in utero or during infancy. The test uses NGS technology combined with CNV analysis to identify genetic variations related to CAKUT, helping to guide treatment and management decisions.
Special Instructions
Not provided.
Limitations
The limitations of this test include potential issues with identifying all genetic variations due to technological constraints of NGS and CNV analysis. Variants outside the target region or with insufficient coverage may not be detected. Additionally, not all detected variants have known clinical significance, which might require further correlation with patient symptoms and clinical history. The test does not capture all types of genetic mutations, particularly those in regions not covered by the selected NGS platform. There can also be challenges in distinguishing between pathogenic and benign variants, requiring expert interpretation.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
No genes
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