Test catalog
Super Painel for Epidermolysis Bullosa with CNV Analysis
Genetic investigation of epidermolysis bullosa with CNV analysis with Super Painel, using targeted whole-genome-based analysis.
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Turnaround time and when it starts
- Standard · 30 calendar days, after acceptance of the sample Fast · 15 calendar days, after acceptance of the sample
- Medical order
- Required. View requirements and limitations.
Test information
Technical details for Super Painel for Epidermolysis Bullosa with CNV Analysis
Method, scope, requirements and limitations
Genetic investigation of epidermolysis bullosa with CNV analysis with Super Painel, using targeted whole-genome-based analysis.
- Applications
- Rare and hereditary diseases
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Estimated turnaround time
- Standard · 30 calendar days, after acceptance of the sample Fast · 15 calendar days, after acceptance of the sample
- Sequencing method
- Next-generation whole-genome sequencing (NGS), with analysis targeted to the panel’s genes.
- Analytical scope
- Analysis of the listed genes using genome data and the laboratory’s validated technical criteria.
- Genes analyzed
-
52 genes analyzed.
See full content
AAGAB, AQP5, ATP2C1, CAST, CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, CTSC, DSG1, DSG2, DSG4, DSP, DST, ENPP1, EXPH5, FERMT1, FLG2, GJB6, GRIP1, ITGA3, ITGA6, ITGB4, JUP, KANK2, KLHL24, KRT1, KRT10, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, POMP, RHBDF2, RSPO1, SERPINB7, SERPINB8, SLURP1, TGM5, TRPV3
- Medical order
- Required
Requirements
A medical order and sufficient clinical information to guide the analysis.
Limitations
The result depends on sample quality, achieved coverage and the method’s limitations. Variants outside the validated scope may not be detected.
Additional information
The gene list, scope and turnaround times reflect the current revision. Interpretation should take clinical information and, when indicated, genetic counseling into account.
