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 inelastic.read more

Tests Available

By gene: GGCX
Next Generation Sequencing
$990
Test Code: 2101
Deletion / Duplication
$990
Test Code: 2102
NGS/Del Dup Comprehensive
$1,365
Test Code: 2103

Related Panels
Pseudoxanthoma elasticum NGS panel (2 genes)
NGS $1,120
Del Dup $990
Comp $1,495

Test Details

Technical Information
Genes: 
GGCX
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
MIM: 
610842
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
2101
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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