Test Name & Code:
• Test Name: PFIC1 Genetic Analysis
• Test Code: 3349
• Test Code: 3349
Related Diseases & Genes:
• “CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1” (OMIM #: 211600)|| Gene: ATP8B1 (OMIM #: 602397)
Synonyms:
-none-
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 5 weeks
• Performed: Everyday
• Reported: 5 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Multisystem Diseases
