Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Alpha 1-antitrypsin deficiency other diagnostic studies
Introduction
Overview
Overview
Patients with low or borderline serum levels are tested with phenotyping (serum levels < 100 mg/dL) by isoelectric focusing (IEF) is the most commonly used method to definitively detect the alpha1-antitrypsin phenotype that indicates a risk for AATD. Genotyping uses DNA extracted from circulating mononuclear blood cells that utilizes DNA amplification techniques with melt-curve analysis.
Other Diagnostic Studies
Other Diagnostic Studies
Phenotyping
Patients with low or borderline serum levels are tested with phenotyping (serum levels < 100 mg/dL) by isoelectric focusing (IEF) is the most commonly used method to definitively detect the alpha1-antitrypsin phenotype that indicates a risk for AATD.[1][2]
Phenotyping is required to confirm AATD. Do not initiate alpha1-antitrypsin replacement therapy without testing.
- PiZZ phenotype is responsible for nearly all cases of AATD emphysema and liver disease.
- PiSZ and PiZ/Null are other phenotypes associated with alpha1-antitrypsin emphysema and liver disease.
- PiNull/Null is not associated with liver disease but is associated with alpha1-antitrypsin deficiency emphysema.
Genotyping
Genotyping uses DNA extracted from circulating mononuclear blood cells that utilizes DNA amplification techniques with melt-curve analysis.
References
References
- ↑ Ljujic M, Topic A, Divac A, Nikolic A, Petrovic-Stanojevic N, Surlan M, Mitic-Milikic M, Radojkovic D (2008). “Isoelectric focusing phenotyping and denaturing gradient gel electrophoresis genotyping: a comparison of two methods in detection of alpha-1-antitrypsin variants”. Transl Res. 151 (5): 255–9. doi:10.1016/j.trsl.2008.02.002. PMID 18433707.
- ↑ Al-Jameil N, Hassan AA, Buhairan A, Hassanato R, Isac SR, Al-Otaiby M, Al-Maarik B, Al-Ajeyan I (2017). “Genotyping diagnosis of alpha-1 antitrypsin deficiency in Saudi adults with liver cirrhosis”. Medicine (Baltimore). 96 (6): e6071. doi:10.1097/MD.0000000000006071. PMC 5313019. PMID 28178162.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]