Test Code 7857

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum (PXE) via the ABCC6 Gene

ABCC6

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?

Candidates for this test are patients with a clinical suspicion of with autosomal dominant pseudoxanthoma elasticum forme fruste, and autosomal recessive generalized arterial calcification of infancy/pseudoxanthoma elasticum. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ABCC6.

Method
NGS with CNV (PGselect platform)
Specimen(s)

Blood, Saliva, or Buccal Swab

Order Options

Test type
OTHER OPTIONS
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