Invitae Comprehensive Porphyrias Panel
Use
The Invitae Comprehensive Porphyrias Panel analyzes genes associated with the porphyrias, a group of disorders caused by abnormal heme production. This test evaluates 10 genes to provide a broad panel for porphyrias, allowing for an efficient evaluation of potentially relevant genes based on a single clinical indication. The porphyrias are genetically heterogeneous, and broad panel testing is crucial for identifying the genetic cause in patients presenting with symptoms such as abdominal pain, seizures, or skin findings exacerbated by sun exposure.
Special Instructions
Ordering this test from Invitae requires specific specimen types, with whole blood in a purple-top EDTA tube as the preferred specimen. Alternate specimens include saliva, buccal swab, and genomic DNA (gDNA). Please ensure to consult specimen collection requirements and obtain a specimen collection kit if necessary. The test can be customized by selecting or deselecting genes.
Limitations
This assay uses next-generation sequencing to cover coding exons and adjacent intronic sequences but may not detect certain types of variants such as structural rearrangements or variants in promoter regions. The analysis excludes sequence changes in non-coding regions unless explicitly guaranteed. Analytical sensitivity and specificity for SNVs, insertions, and deletions <15bp are over 99%; larger events are detected with slightly reduced sensitivity. Single exon copy number events may not always be analyzed due to inherent sequence properties or data quality.
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)