Pseudoxanthoma elasticum (PXE; MIM 264800) is an autosomal recessive disorder, characterized by ectopic mineralization and fragmentation of the elastic fibers.  The clinical findings are progressive and primarily involve the skin, eyes and cardiovascular system.   The skin of the neck and flexural areas displays yellow papules or plaques and eventually becomes lax, redundant and more

Tests Available

By gene: ABCC6
Next Generation Sequencing
Test Code: 1439
Deletion / Duplication
Test Code: 1440
NGS/Del Dup Comprehensive
Test Code: 1633

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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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