Invitae Monogenic Inflammatory Bowel Disease Panel
Use
The Invitae Monogenic Inflammatory Bowel Disease Panel analyzes genes associated with primary immunodeficiencies that lead to pediatric-onset inflammatory bowel disease (IBD). The genetic analysis aids in diagnosing conditions characterized by symptoms like loose stools, diarrhea, severe colitis with deep ulcerations, weight loss, and growth restriction, particularly distinguishing monogenic IBD from multifactorial forms.
Special Instructions
The test can be customized by removing specific genes. The laboratory performs full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology, focusing on clinically important regions of each gene.
Limitations
This test achieves >99% analytical sensitivity and specificity for single nucleotide variants and small indels, and it can detect exon-level deletions and duplications. However, variants outside analyzed regions, structural rearrangements, and complex sequence variants may not be detected. The test may have reduced sensitivity for single-exon copy number events and larger insertions/deletions. Challenges such as mosaicism, phasing, or mapping ambiguity may affect results; certain non-coding regions and complex sequences are not covered.
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)