Invitae Xeroderma Pigmentosum Panel
Use
The Invitae Xeroderma Pigmentosum Panel analyzes genes associated with xeroderma pigmentosum (XP), characterized by extreme sensitivity to UV exposure. This panel aids in diagnosing XP and guiding treatment and management. It helps confirm a diagnosis, guide treatment decisions, and inform recurrence-risk assessment and genetic counseling. XP is genetically heterogeneous, making broad panel testing valuable for efficient evaluation of relevant genes based on clinical indications.
Special Instructions
Not provided.
Limitations
The assay achieves >99% analytical sensitivity and specificity for SNVs, indels <15bp, and exon-level deletions and duplications. It can detect larger insertions/deletions but sensitivity for these may be reduced. Some variants, like structural rearrangements or complex sequences, may not be detected. Limitations regarding single-exon copy number events exist due to sequence properties or data quality. Limitations of the gene analysis are detailed in the report, and variants in certain non-coding regions and structural rearrangements may not be covered unless explicitly guaranteed.
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