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
Genes can be customized by removing specific genes from the test panel. The test is NY state approved and can be supplemented through coordination with client services for special specimen collection needs.
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)