Pseudoxanthoma Elasticum (PXE)

PXE is associated with dystrophic mineralization of connective tissues and affects multiple organs including the skin, eyes and cardiovascular system. The specific clinical findings include lax and inelastic skin, angioid streaks of the retina, and mineralization of the mid-laminar layer of blood vessels of the gastrointestinal tract and cardiovascular system. Onset is often in late childhood or adolescence when yellowish cutaneous papules are noted, most commonly, on the neck, axillae and antecubital fossae. However, in many cases the initial physical finding is retinal angioid streaks corresponding with breaks in the elastin-rich Bruch’s membrane of the choroids. As the disease progresses, fragile new vessels may grow through the angioid streaks and hemorrhage, resulting in central vision loss. Affects on the cardiovascular system may include hypertension, intermittent claudication, gastrointestinal bleeding, and rarely myocardial infarction. Mineralization of elastic structures, the hallmark of PXE, results from altered function of the multidrug resistance associated protein 6 (MRP6), the protein encoded by the ATP-binding cassette family C member 6 (ABCC6) gene.

Tests Available

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Genetic counseling, especially recurrence risk and prenatal diagnosis

Ordering

TL55
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Genetic counseling, especially recurrence risk and prenatal diagnosis

Ordering

TL58
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.