Test Name & Code:
• Test Name: Citrullinemia Type I Genetic Testing
• Test Code: 3379
• Test Code: 3379
Related Diseases & Genes:
Synonyms:
• CITRULLINEMIA, TYPE I; CTLN1
• CITRULLINURIA
• ARGININOSUCCINATE SYNTHETASE DEFICIENCY
• ASS DEFICIENCY
• CITRULLINURIA
• ARGININOSUCCINATE SYNTHETASE DEFICIENCY
• ASS DEFICIENCY
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 4 weeks
• Performed: Everyday
• Reported: 4 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):
• Inborn Errors of Metabolism
