Test Name & Code:
• Test Name: Alpha-1-Antitrypsin Genotype Determination (M, S, Z Alleles)
• Test Code: 3111
• Test Code: 3111
Related Diseases & Genes:
• Emphysema-cirrhosis, due to AAT deficiency (OMIM #: 613490) || Gene: SERPINA1 (OMIM #: 107400)
• Emphysema due to AAT deficiency (OMIM #: 613490)
• Emphysema due to AAT deficiency (OMIM #: 613490)
Synonyms:
• A1AT Deficiency
• AAT Deficiency
• “Serpin Peptidase Inhibitor, Clade A, Member 1”
• AAT Deficiency
• “Serpin Peptidase Inhibitor, Clade A, Member 1”
Test Details:
• Methodology: Strip Test
• Performed: Everyday
• Reported: 2 weeks
• Performed: Everyday
• Reported: 2 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):
• Multisystem Diseases
