Alpha-1 Antitrypsin Mutation AATMUT

Synonyms

Allscripts (AEHR) Order Name

Alpha-1 Antitrypsin Mutation

Sunrise Clinical Manager (SCM) Order 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 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

Result Interpretation

See Report
 
TAT: 7 - 13 Days

Forms


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