Invitae Cholestasis Panel
Use
The Invitae Cholestasis Panel analyzes a broad range of genes to determine the etiology of cholestasis in both isolated or syndromic forms, including Alagille syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome, or progressive familial intrahepatic cholestasis. Cholestasis is genetically heterogeneous, and broad panel testing allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication.
Special Instructions
Invitae is a CAP-accredited and CLIA-certified clinical diagnostic laboratory. Preferred specimen is 3mL whole blood in purple-top EDTA tube (K2EDTA or K3EDTA), with alternatives including saliva, buccal swab, and gDNA.
Limitations
This assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp, and exon-level deletions and duplications. Inherent sequence properties or isolated reduction in data quality may prevent analysis of certain single-exon copy number events. Structural rearrangements, gene conversion events, translocations, short tandem repeats, or complex architecture variants may not be detected. Sequence changes in promoter, non-coding exons, or non-coding regions are not covered unless explicitly guaranteed.
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)