The Inflammatory Bowel Disease Panel will:
- Identify mutations associated with very early onset IBD (onset in less than 10 years) or IBD-like diseases
- Make a molecular diagnosis with the basis of pathogenesis
- Obtain rationale for patient-specific early intervention with emerging or experimental therapeutics and cell-based approaches
- Screen family members for carrier detection and genetic counseling
- Uhling, (2013), Gut, 62: 1795-1805.
- Zhang and Li, (2014), World J Gastroenterol, 20: 91-99.
- Confirmation of a clinical diagnosis of inflammatory bowel diseases (IBD).
- Carrier testing in adults with a family history of inflammatory bowel diseases (IBD).
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml.
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 10 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Early Onset Inflammatory Bowel Disease: Sequencing Panel