Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) and autosomal recessive (RDEB) - Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of mechanobullous disorders characterized by fragility of the skin with recurrent blister formation. EB can be divided into 4 major types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome.read more

Tests Available

By gene: COL7A1
Next Generation Sequencing
Test Code: 1790
Deletion / Duplication
Test Code: 1791
NGS/Del Dup Comprehensive
Test Code: 1792

Test Details

Technical Information
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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