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Alpha-1-Antitrypsin (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to … see more Alpha-1-Antitrypsin (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to Alpha-1-Antitrypsin Phenotype  see less
Clinical Genetic Test
Help
offered by
ARUP Laboratories, Molecular Genetics and Genomics
View lab's test page
LinkOut
GTR Test Accession: Help GTR000500899.4
NYS CLEP
RESPIRATORY DISEASEINHERITED DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2023-07-31
View version history
Last annual review date for the lab: 2024-07-12 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Screening
Conditions (2): Help
Chronic obstructive pulmonary disease; Alpha-1-antitrypsin deficiency
Genes (1): Help
SERPINA1 (14q32.13)
Proteins (1): Help
Alpha-1-antitrypsin
Methods (2): Help
Biochemical Genetics - Protein analysis: Immunoturbidimetry/Isoelectric focusing; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
ARUP Laboratories, Molecular Genetics and Genomics
View lab's website
View lab's test page
Test short name: Help
A1A GENO
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
51256
View other test codes
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
Order URL
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Proteins Help
Total proteins: 1
Protein Associated Condition
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Protein analysis
Immunoturbidimetry/Isoelectric focusing
Targeted variant analysis
Polymerase Chain Reaction/Fluorescence Monitoring
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
N/A

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
N/A

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. N/A
Research:
Is research allowed on the sample after clinical testing is complete? Help
N/A
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytic sensitivity and specificity of genotyping are 99%
View citations (1)
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
N/A

Laboratory's policy on reporting novel variations Help
N/A
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
NYS CLEP Approval: Help
Number: 5066
Status: Approved
Additional Information
Practice guidelines:
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.