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
Not provided.
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
JAG1, NOTCH2
Gene
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)
Other tests from different labs that may be relevant