Home › Test Directory › Genodermatology › Epidermolysis bullosa (29 Genes)
Test Code: PNL092

Epidermolysis bullosa (29 Genes)

Genodermatology
Epidermolysis bullosa (EB) is a group of inherited disorders characterised by extremely fragile skin that blisters and tears easily, often in response to minor friction or trauma. Over 20 genes are associated with EB, including COL7A1, KRT5, KRT14, LAMA3, LAMB3, LAMC2, and ITGB4, depending on the subtype.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing

Genes Analyzed

28 genes
COL7A1 COL17A1 EXPH5 KLHL24 ITGA6 ITGB4 KRT5 KRT14 LAMA3 LAMB3 LAMC2 PLEC CD151 CDSN CHST8 CSTA DSG1 DSG2 DSG4 DSP DST FERMT1 GRIP1 ITGA3 MMP1 NID1 PKP1 TGM5

Methodology

Capture-based target enrichment and Next Generation Sequencing.
Test Actions
Specifications
  • Test Code PNL092
  • Category Genodermatology
  • Sample 3 ml peripheral blood in EDTA (purple/pink top) tube
  • TAT 3 weeks days
  • Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
  • Genes 28 genes analyzed
Related Tests
Cartilage-hair hypoplasia and anauxetic dysplasia spectrum disorders (11 Genes) PNL037
Ectodermal dysplasia (30 Genes) PNL090
Poikiloderma spectrum (4 Genes) PNL210
Need Assistance?

Our genomic scientists are available to discuss this test.

Contact Support

Need Help with This Test?

Our team of board-certified genomic scientists is available to answer your questions about test selection, sample requirements, and result interpretation.

Schedule a Consultation Call Us