Next Gen Krystal Biotech-l DEB
Use
This is a genetic testing program that provides no-charge testing for specified genes to patients residing in the United States, including Puerto Rico, who have clinical symptoms consistent with epidermolysis bullosa (EB). The test seeks to identify mutations within a panel of 27 genes associated with EB. This information is valuable for confirming a clinical diagnosis, guiding treatment decisions, and facilitating familial testing.
Special Instructions
This program is available at no charge to patients meeting eligibility criteria, which includes having symptoms consistent with EB and no prior genetic testing for EB. Familial testing is available even if the affected family member does not show symptoms.
Limitations
Testing is contingent upon meeting the eligibility criteria. Patients must not have undergone prior genetic testing for EB. DNA from saliva and buccal specimens may be contaminated with microbial and food DNA, impacting quality and potentially causing delays. Buccal swabs are less preferable due to lower DNA yield and higher contamination risk.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 ml - 5 ml
Minimum Volume
1 ml
Container
EDTA (purple top) or ACD (yellow top) tube
Causes for Rejection
Heparin (green top) tube usage is discouraged.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | 8 days |