Alpha 1-antitrypsin deficiency other diagnostic studies: Difference between revisions
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==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 | ===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. | 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. | ||
Phenotyping is required to confirm AATD. Do not initiate alpha1-antitrypsin replacement therapy without testing. | Phenotyping is required to confirm AATD. Do not initiate alpha1-antitrypsin replacement therapy without testing. | ||
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PiSZ and PiZ/Null are other phenotypes associated with alpha1-antitrypsin 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. | 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. | Genotyping uses DNA extracted from circulating mononuclear blood cells that utilizes DNA amplification techniques with melt-curve analysis. | ||
Revision as of 15:08, 12 December 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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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
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. 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.