0051256
print

Alpha-1-Antitrypsin ( SERPINA1 ) Enzyme Concentration and 2 Mutations with Reflex to Alpha-1-Antitrypsin Phenotype

A1A GENO
Example Reports
Heterozygous
Homozygous
Negative

Icon

Informed Consent for Genetic Testing (Required for NY patients)

Icon

Additional Technical Information

Ordering Recommendation

Preferred test to identifiy alpha-1-antitrypsin deficiency and causative DNA and protein variants.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Serum separator tube AND lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).

Specimen Preparation

Allow serum to clot completely at room temperature. Separate serum from cells ASAP or within 2 hours of collection. Transport 0.5 mL serum AND 3 mL whole blood. (Min: 0.5 mL serum AND 0.5 mL whole blood)

Storage/Transport Temperature

Preferred transport temp: Refrigerated.

Unacceptable Conditions

Frozen specimens in glass collection tubes.

Remarks

Counseling and informed consent are recommended for genetic testing. Consent forms are linked above.
New York Clients: informed consent is required with submission.

Stability

Serum: Room Temperature: 1 week; Refrigerated: 3 months; Frozen: 3 months (avoid repeat freeze/thaw cycles)
Whole Blood: Room Temperature: 3 days; Refrigerated: 1 week; Frozen: 1 month.

Methodology

Immunoturbidimetry / Polymerase Chain Reaction (PCR) / Fluorescence Monitoring / Isoelectric Focusing

Performed

Varies

Reported

2-10 days

Reference Interval

Test Number
 Components
 Reference Interval
  Alpha-1-Antitrypsin 90-200 mg/dL

Interpretive Data

Refer to report

Compliance Category

Laboratory Developed Test (LDT)

Note

Alpha-1-antitrypsin serum protein concentration determination and A1A genotyping are performed on all specimens. If two deficiency alleles (ZZ, SZ, or SS) are detected, then no further testing will be added. If the protein concentration is less than 90 mg/dL and only one or no deficiency allele is detected by A1A genotyping, then phenotyping will be added. Additional charges apply.

Hotline History

N/A

CPT Codes

82103; 81332; if reflexed, add 82104

Are you an ARUP Client? Click here for your pricing.

Components

Component Test Code* Component Chart Name LOINC
0050001 Alpha-1-Antitrypsin 1825-9
0051259 Alpha-1-Antitrypsin S Allele 1829-1
0051260 Alpha-1-Antitrypsin Z Allele 1831-7
0051261 Alpha-1-Antitrypsin Interpretation 1830-9
0089005 Alpha-1-Antitrypsin Phenotype 49244-7
2001289 Alpha-1-Antitrypsin Genotype Specimen 31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • A-1-Antitrypsin
  • A1A
  • AAT
  • Alpha 1 Antitrypsin
  • Alpha 1 Antitrypsin Genotype
  • Alpha one Antitrypsin
  • Alpha1-Protease Inhibitor
  • Anti-Alpha-1-Trypsin
  • Antitrypsin
  • Phenotype
  • Phenotyping
  • Pi Typing
  • Prolastin
  • Protease I
Alpha-1-Antitrypsin (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to Alpha-1-Antitrypsin Phenotype