Darier-White disease (DAR; MIM 124200), also known as keratosis follicularis, is a generalized, severe autosomal dominant genodermatosis caused by mutations in the ATP2A2 gene. DAR is characterized by greasy and malodorous wart-like plaques in seborrheic areas of the skin; typically in scalp, forehead, flexural areas, chest, and back. Mucous membranes and nails can also be affected. Heat, infection, mechanical trauma, and ultraviolet radiation  can exacerbate the disease.read more

Tests Available

By gene: ATP2A2
Next Generation Sequencing
Test Code: 5370
Deletion / Duplication
Test Code: 5371
NGS/Del Dup Comprehensive
Test Code: 5372

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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