Invitae Hereditary Hemochromatosis Panel
Use
The Invitae Hereditary Hemochromatosis Panel analyzes genes associated with hereditary hemochromatosis. This genetic disorder is characterized by the accumulation of iron within the body, leading to the failure of various organs including the liver, heart, and pancreas, and resulting in serious conditions such as cirrhosis, diabetes, and cardiomyopathy. Testing is important for the early detection and management of these potential complications.
Special Instructions
This test is customizable, allowing the selection of specific genes from the panel for analysis. It is advised to consult with Invitae's client services for any questions about the assay or report.
Limitations
The assay may not detect certain structural rearrangements or variants embedded in sequence with complex architecture. Additionally, certain types of genomic variations, such as mosaicism or phasing, may not be fully resolved. Invitae does not guarantee the analysis of sequence changes in promoter regions, non-coding exons, and other non-coding regions.
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)
