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
The test can be performed using either the Exome or Genome platform, depending on the clinical scenario. Options for exome-wide CNV analysis and STAT testing are available, which may incur additional fees. Testing can be administered on a variety of specimen types including blood, DNA, buccal swab, saliva, and tissue, depending on the selected platform. Detailed collection and preservation methods are provided, ensuring optimal sample processing and result accuracy.
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
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