Test Name & Code:
• Test Name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
• Test Code: 2174
• Test Code: 2174
Related Diseases & Genes:
• Immunodeficiency due to purine nucleoside phosphorylase deficiency (OMIM #: 613179) || Gene: PNP (OMIM #: 164050)
Synonyms:
• PNP Sequence Analysis
• NUCLEOSIDE PHOSPHORYLASE; NP
• PURINE-NUCLEOSIDE:ORTHOPHOSPHATE RIBOSYLTRANSFERASE
• NUCLEOSIDE PHOSPHORYLASE; NP
• PURINE-NUCLEOSIDE:ORTHOPHOSPHATE RIBOSYLTRANSFERASE
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 7-10 days
• Performed: Everyday
• Reported: 7-10 days
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):
• Dsymorphology
