Invitae Congenital Diarrhea Panel
Use
The Invitae Congenital Diarrhea Panel analyzes genes associated with very early-onset severe or persistent diarrhea in infants. These conditions often involve feeding intolerance and malabsorption, which can be life-threatening. This test covers monogenic congenital diarrhea and monogenic inflammatory bowel disease, which are genetically heterogeneous and include autosomal and X-linked inheritance patterns.
Special Instructions
Not provided.
Limitations
The assay may not detect structural rearrangements like inversions, translocations, or variants in complex sequence architectures. Single-exon events may occasionally not be analyzed due to sequence properties or data quality. Some regions like non-coding sequences may not be fully covered unless explicitly indicated.
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)
Other tests from different labs that may be relevant