Benign chronic pemphigus (BCPM; MIM 169600) also known as Hailey-Hailey disease is an autosomal dominant genetic skin disorder caused by mutations in the ATP2C1 gene. It is characterized by recurrent blisters and erosions that typically occur in skin folds such as the neck, axillae, popliteal fossa, groin, under the breasts, and perineum. The condition is exacerbated by heat, perspiration, infection, mechanical trauma, ultraviolet radiation, and more

Tests Available

By gene: ATP2C1
Next Generation Sequencing
Test Code: 5361
Deletion / Duplication
Test Code: 5362
NGS/Del Dup Comprehensive
Test Code: 5363

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: 2 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: 2 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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