α1-Antitrypsin Deficiency, DNA Analysis
Also known as: Alpha1-Antitrypsin Deficiency, Genotype, Protease Inhibitor (PI)
Use
Aids in establishing a diagnosis of individuals suspected to have alpha-1 antitrypsin deficiency
Special Instructions
Further testing of symptomatic individuals heterozygous for one variant (S or Z) or with negative results may include phenotyping (PI typing), AAT level testing, and/or expanded genotyping. Genetic coordinators are available for healthcare providers to discuss results and to guide additional testing.
Limitations
Results should be integrated with clinical information for accuracy. Although highly reliable, molecular testing can occasionally lead to diagnostic errors due to genetic variants, blood transfusions, or sample handling issues like mislabeling. False negatives or positives might occur due to uncommon genetic factors, such as mosaicism or family relationship misrepresentation. The test has not been cleared or approved by the FDA, and rare diagnostic errors might occur.
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 21723-2
- 21726-5
- 72486-4
Result Turnaround Time
6-12 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
7 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube
Storage Instructions
Maintain specimen at room temperature or refrigerate.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container