Test Name & Code:
• Test Name: Pseudoxanthoma Elasticum Gene Test
• Test Code: 4684
• Test Code: 4684
Related Diseases & Genes:
• Pseudoxanthoma elasticum (OMIM #: 264800) || Gene: ABCC6 (OMIM #: 603234)
• “Pseudoxanthoma elasticum, forme fruste” (OMIM #: 177850)
• “Arterial calcification, generalized, of infancy, 2” (OMIM #: 614473)
• “Pseudoxanthoma elasticum, forme fruste” (OMIM #: 177850)
• “Arterial calcification, generalized, of infancy, 2” (OMIM #: 614473)
Synonyms:
• “ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6”
• GRONBLAD-STRANDBERG SYNDROME
• PXE
• GRONBLAD-STRANDBERG SYNDROME
• PXE
Test Details:
• Methodology: MLPA
• Performed: Everyday
• Reported: 4 weeks
• Performed: Everyday
• Reported: 4 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Dysmorphology
