Invitae Alagille Syndrome Panel
Use
This test analyzes two genes, JAG1 and NOTCH2, associated with Alagille syndrome (ALGS), a multisystem disorder that includes liver disease, congenital heart defects, eye findings, vertebral defects, and characteristic facial features. Identification of a genetic change can impact medical management, predict outcomes, and indicate recurrence risk. It provides insight for at-risk individuals without obvious symptoms, potentially identifying risks of congenital heart defects or bile duct paucity.
Special Instructions
No specific special instructions provided on the page. Contact client services with any questions regarding the analysis of these genes or specific patient queries.
Limitations
The test achieves >99% analytical sensitivity and specificity for SNVs, insertions, deletions <15bp, and exon-level CNVs. Limitations include potentially reduced sensitivity for larger insertions/deletions, marginal detection in complex regions, and inability to fully resolve mosaicism, phasing, or mapping ambiguity. Promoter, non-coding exons, and other non-coding regions generally not covered unless specifically stated.
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)