Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel
Use
The Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel analyzes genes associated with epidermolysis bullosa and palmoplantar keratoderma. These conditions are characterized by skin fragility or thickening of the skin on palms and soles. Genetic testing may confirm a diagnosis, guide treatment and management, and inform recurrence-risk assessment and genetic counseling.
Special Instructions
Turnaround time is 10–21 calendar days, with an average of 14 days. It is New York approved, and requires a 3mL whole blood sample in a purple-top EDTA tube. Alternate specimens include saliva, buccal swab, and gDNA.
Limitations
The assay may have reduced sensitivity for large insertions/deletions larger than 15bp but smaller than a full exon. In rare situations, single-exon copy events may not be analyzed due to inherent sequence properties. Structural rearrangements and variants in complex sequence architectures may not be detected. Certain non-coding regions are generally not 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