Test Code: PNL092

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 (29 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing.

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1800

Description:
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.