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Test Code 3003

Epidermolysis Bullosa and Related Disorders Panel

18 genes

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features and a clinical or suspected diagnosis of epidermolysis bullosa or related skin fragility disorders
  • Individuals with a family history of autosomal recessive epidermolysis bullosa and EB-related disorders
  • Reproductive partners of individuals with known pathogenic variants in any of the tested genes
Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

Platform
Test type
OTHER OPTIONS
for pricing.

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