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Alpha-1-Antitrypsin Mutation / Genotyping
Clinical Genetic Test
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offered by
Molecular Diagnostic Laboratory
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GTR Test Accession: Help GTR000029927.9
CAP
INHERITED DISEASEMETABOLIC DISEASERESPIRATORY DISEASE ... View more
Last updated in GTR: 2023-11-29
View version history
Last annual review date for the lab: 2023-11-29 LinkOut
At a Glance
Test purpose: Help
Mutation Confirmation; Diagnosis
Conditions (1): Help
Alpha-1-antitrypsin deficiency
Genes (1): Help
SERPINA1 (14q32.13)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Pyrosequencing
Target population: Help
Alpha1-antitrypsin deficiency (α1ATD, AATD) is suspected in individuals with evidence …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Diagnostic Laboratory
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Nurse Practitioner
  • Physician Assistant
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
AATM
Lab contact: Help
Sophia Hauxwell, Manager
shauxwell@nebraskamed.com
402-559-5104
Allison Cushman-Vokoun, PhD, MD, Medical Director
acushman@unmc.edu
402-559-3512
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Call Regional Pathology Services at 800-334-0459 to set up a new account.
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Pyrosequencing
PyroMark Q24 System
Clinical Information
Test purpose: Help
Mutation Confirmation; Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Alpha1-antitrypsin deficiency (α1ATD, AATD) is suspected in individuals with evidence of pulmonary disease (i.e., emphysema, asthma, persistent airflow obstruction, and/or chronic bronchitis) and/or evidence of liver disease at any age, including obstructive jaundice in infancy. AATD is also observed rarely in individuals with Wegener granulomatosis and necrotizing panniculitis.
View citations (1)
  • Stoller JK, Hupertz V, Aboussouan LS. Alpha-1 Antitrypsin Deficiency. 2006 Oct 27 [updated 2023 Jun 01]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301692.
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Amplified products are subjected to pyrosequencing analysis to identify mutations in the Z and S deficiency alleles.
Test Platform:
None/not applicable
Test Comments: Help
Mutation panel: Z (p.E342K) and S (p.E264V) mutations.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This assay detects the two most common deficiency alleles, known as Z (p.E342K) and S (p.E264V). Assay does not distinguish the normal variants of alpha 1 antitrypsin known as M, M1, and M2.
View citations (1)
  • Rapid and simple diagnosis of the two common alpha 1-proteinase inhibitor deficiency alleles Pi*Z and Pi*S by DNA analysis. Braun A, et al. Eur J Clin Chem Clin Biochem. 1996;34(9):761-4. doi:10.1515/cclm.1996.34.9.761. PMID: 8891530.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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