This test is not orderable.

Alpha-1 Antitrypsin Deficiency, DNA Analysis Build info

Synonyms

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

Short Name

ALPHA-1 ANTITRYPSIN MUTATION

Procedure Master Number

LAB11551

Procedure ID

115417

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

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 Laboratory

LabCorp

CPT

81332

PDM

 5901830

Only Orderable at Locations:

 Orderable Everywhere

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