Alpha 1-antitrypsin deficiency other diagnostic studies

Alpha 1-antitrypsin deficiency Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Alpha 1-antitrypsin deficiency from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X Ray
CT
MRI
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Alpha 1-antitrypsin deficiency other diagnostic studies On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Alpha 1-antitrypsin deficiency other diagnostic studies All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Alpha 1-antitrypsin deficiency other diagnostic studies
CDC on Alpha 1-antitrypsin deficiency other diagnostic studies
Alpha 1-antitrypsin deficiency other diagnostic studies in the news
Blogs on Alpha 1-antitrypsin deficiency other diagnostic studies
Directions to Hospitals Treating Alpha 1-antitrypsin deficiency
Risk calculators and risk factors for Alpha 1-antitrypsin deficiency other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Please help WikiDoc by adding content here. It's easy! Click here to learn about editing.

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.

References

Template:WikiDoc Sources