VACTERL Association and Related Disorders Panel
Use
This test is intended for individuals with relevant clinical features indicative of VACTERL association or related disorders. It is also suitable for individuals with abnormal prenatal ultrasound findings suggesting multiple congenital anomalies consistent with VACTERL association. The test aids in confirming or ruling out a diagnosis by providing comprehensive genetic analysis of conditions that phenotypically overlap with VACTERL association.
Special Instructions
Testing may be ordered through the myPrevent online platform or by faxing a test requisition form. STAT testing is available with a 25% surcharge. Institutional pricing is available upon sign in. Exome-wide CNV analysis is available as an additive option for PGxome-based or custom panels, though it is unavailable for PG-Select panels and Sanger sequencing.
Limitations
This test does not detect all genetic causes of VACTERL association and related disorders due to technical limitations related to sequencing and variant interpretation. The absence of pathogenic variants in tested genes does not rule out a genetic cause. Interpretation relies heavily on the quality of clinical information provided, and incomplete data can lead to undetectable variant findings.
New York Approved
Methodology
NGS (WES)
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