SERPINA1 Gene, Full Gene Analysis, Varies
Use
Identification of causative variants when a deficient serum level of alpha‑1‑antitrypsin is not explained by routine testing, such as proteotyping, genotyping, or isoelectric focusing phenotyping. Determining the specific allelic variant (full gene analysis) for prognosis and genetic counseling.
Special Instructions
Specimen required includes whole blood (Lavender top EDTA or yellow top ACD, or any anticoagulant). Preferred to arrive within 96 hours of collection. Patient preparation: previous allogeneic bone marrow transplant will interfere with testing—call lab for instructions. Molecular Genetics: SERPINA1 Gene Patient Information form (T521) is required; for New York clients, informed consent (T576/T826) and Gastroenterology and Hepatology Test Request (T728) if not ordering electronically. Testing algorithm includes reflex tests (CULFB, CULAF, _STR1, _STR2, MATCC) per algorithm.
Limitations
A small percentage of individuals may have mutations not identified by this method (e.g., large genomic deletions, promoter mutations). The absence of a mutation does not eliminate carrier status or diagnosis. DNA alterations of uncertain significance may be identified. Rare polymorphisms could lead to false‑negative or false‑positive results. Results should be interpreted in clinical context.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 94222-7
- 50397-9
- 82939-0
- 69047-9
- 48767-8
- 31208-2
- 18771-6
Result Turnaround Time
14-20 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD); any anticoagulant acceptable
Collection Instructions
Invert several times to mix blood; send specimen in original tube.
Patient Preparation
Previous bone marrow transplant from an allogenic donor will interfere with testing; call lab for instructions.