Alpha-1 Antitrypsin Mutation AATMUT

Synonyms
Allscripts (AEHR) Order Name	Alpha-1 Antitrypsin Mutation
Sunrise Clinical Manager (SCM) Order Name	Alpha-1 Antitrypsin Mutation
EPIC Order Name	Alpha-1 Antitrypsin Deficiency, Common Mutation Analysis
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

Synonyms