Alagille Syndrome Panel
Use
The Alagille Syndrome Panel is primarily intended for individuals presenting clinical features consistent with Alagille syndrome, which commonly manifests in infancy or early childhood. It is suitable for those with a known family history of the syndrome without prior genetic testing and for potential liver donors requiring screening. This test aids in confirming a diagnosis, understanding the genetic basis of the condition, and facilitating appropriate management and treatment plans for affected individuals.
Special Instructions
Not provided.
Limitations
This test is limited to the analysis of two genes associated with Alagille syndrome. While it employs NGS with CNV detection capabilities, it may not detect all genetic abnormalities responsible for the condition. Variants in genes outside the scope of this panel will not be identified. Accuracy of results also depends on the quality of clinical and family history data provided.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
JAG1, NOTCH2
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