Alpha-1 Antitrypsin Deficiency, Common Mutation Analysis

Synonyms

  • AATMUT
  • ALPHA-1 ANTITRYPSIN GENOTYPE
  • ALPHA-1 ANTITRYPSIN MUTATION
  • LAB11551

Cerner Name

Alpha-1 Antitrypsin Mutation

Clinical Info

DNA-based determination of the two common alleles underlying α1-antitrypsin deficiency associated with chronic obstructive pulmonary disease (COPD) and childhood-onset liver disease. Prenatal testing is available.
Limitations  Tests for the two most common mutations, S and Z. Rare alleles, null or otherwise, are not detected by this assay.

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

5 ml Whole EDTA Blood  (3 mL min), 10 mL Amniotic Fluid(5mL min)

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender EDTA tube or Amniotic Fluid
Specimen: 5 ml Whole EDTA Blood  (3 mL min), 10 mL Amniotic Fluid(5mL min)
Transport Temperature: Room Temperature or Refrigerated

Transport Instructions

Room Temperature or Refrigerated

Specimen Stability

Methodology

Multiplex allele-specific polymerase chain reaction (PCR) and gel electrophoresis  

Days Performed

Performing Laboratories

LabCorp

CPT

81332

PDM

5901830

Results
Component Name Base Name Common Name External Name
ALPHA-1 ANTITRYPSIN MUTATION A1ANTITRYPMU ALPHA 1 ANTITRYPSIN MUTATION Alpha-1 Antitrypsin Mutation
ADDITIONAL INFORMATION ADDINFO ADDITIONAL INFORMATION Additional Information
ELECTRONIC SIGNATURE ELECTSIGNAT ELECTRONIC SIGNATURE Electronic Signature

Result Interpretation

See Report
 
TAT: 7 - 13 Days

Forms
Molecular-send outs LAB11551 build edit