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 |
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