Inpatient and Outpatient Orderable

Alpha-1 Antitrypsin Deficiency, Common Mutation Analysis

Synonyms

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

Cerner Name

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

Specimen Volume

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

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

Result Interpretation

See Report

TAT: 7 - 13 Days

Forms

LAB11551

Search: .supercomplete-item { width: 600px; white-space: nowrap; overflow: hidden; text-overflow: ellipsis; } $(document).ready(function() { $("#search_input").supercomplete(); });