Alpha-1 Antitrypsin Deficiency, Common Mutation 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 Type

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

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