Number of Panel Genes: 
2

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

2 Panel Genes: ABCC6, GGCX
Next Generation Sequencing
$1,130
Test Code: 2104
Deletion / Duplication
$750
Test Code: 2105
NGS/Del Dup Comprehensive
$1,780
Test Code: 2106

Test Details

Technical Information
Panel Genes: 
ABCC6, GGCX
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
MIM: 
264800
610842
Billing
Price: 
$1,130
CPT Codes: 
81479 x 2
Ordering
SKU:
2104
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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