SERPINA1 sequencing
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000554057.5
Last updated in GTR: 2022-01-12
Last annual review date for the lab: 2022-01-12 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Alpha-1-antitrypsin deficiency; Bronchiectasis; Chronic obstructive pulmonary disease
Genes (1): Help
SERPINA1 (14q32.13)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
All individuals with COPD regardless of age or ethnicity should …
Not provided
Establish or confirm diagnosis; Lifestyle planning; Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Genetics Laboratory, Trillium Health Partners
View lab's website
Test short name: Help
Specimen Source: Help
  • Buccal swab
  • Buffy coat
  • Cell culture
  • Cord blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Plasma
  • Saliva
  • Skin
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
SERPINA1 sequencing
Lab contact: Help
Andrea Vaags, FCCMG, Lab Director
+1-905-813-1100 ext 6150
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
This laboratory is located in Ontario, Canada and cannot accept specimens from the USA. Out of province tests are available through arrangement with the laboratory manager. Properly labeled peripheral blood in EDTA with a completed requisition are required. This includes the patient's measured serum alpha-1 antitrypsin activity level and reasons …
View more
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Test strategy: Help
Sanger sequencing. MLPA available as needed.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130, 3500
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Predictive
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Balduyck M, Odou MF, Zerimech F, Porchet N, Lafitte JJ, Maitre B. Diagnosis of alpha-1 antitrypsin deficiency: modalities, indications and diagnosis strategy. Rev Mal Respir. 2014;31(8):729-45. doi:10.1016/j.rmr.2014.06.001. Epub 2014 Jul 03. PMID: 25391508.

Lifestyle planning
View citations (1)
  • Bernhard N, Lepper PM, Vogelmeier C, Seibert M, Wagenpfeil S, Bals R, Fähndrich S. Deterioration of quality of life is associated with the exacerbation frequency in individuals with alpha-1-antitrypsin deficiency - analysis from the German Registry. Int J Chron Obstruct Pulmon Dis. 2017;12:1427-1437. doi:10.2147/COPD.S130925. Epub 2017 May 12. PMID: 28553095.

Predictive risk information for patient and/or family members
View citations (1)
  • Abboud RT, Nelson TN, Jung B, Mattman A. Alpha1-antitrypsin deficiency: a clinical-genetic overview. Appl Clin Genet. 2011;4:55-65. doi:10.2147/TACG.S10604. Epub 2011 Mar 31. PMID: 23776367.

Target population: Help
All individuals with COPD regardless of age or ethnicity should be tested for AATD. All individuals with unexplained chronic liver disease should be tested for AATD. All individuals with necrotizing panniculitis, granulomatosis with polyangiitis, or unexplained bronchiectasis should be tested for AATD. Parents, siblings, and children, as well as extended … View more
View citations (1)
  • Sandhaus RA, Turino G, Brantly ML, Campos M, Cross CE, Goodman K, Hogarth DK, Knight SL, Stocks JM, Stoller JK, Strange C, Teckman J. The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult. Chronic Obstr Pulm Dis. 2016;3(3):668-682. doi:10.15326/jcopdf.3.3.2015.0182. Epub 2016 Jun 06. PMID: 28848891.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variant interpretation protocol is as per ACMG consensus recommendations, Genet. Med. 2015; 17(5):405-424

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

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. It is expected that patients have received adequate counselling regarding potential for changes in variant interpretation over time. Patients should keep in touch with their counselling service with regard to this potential. Re-interpretation is performed at no additional cost, upon request.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Test uses the MRC Holland MLPA P459 SERPINA1 probemix following the company's recommended procedures.
Test Platform:
ABI3130, ABI3500
Test Confirmation: Help
Positive results are used in the context of other, independent factors (patient phenotype, second mutation, enzyme activity level).
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Bidirectional Sanger sequencing has nearly 100% analytical sensitivity and specificity for detection of germ line sequence variants in the targeted regions.
View citations (1)
  • Graham RP, Dina MA, Howe SC, Butz ML, Willkomm KS, Murray DL, Snyder MR, Rumilla KM, Halling KC, Highsmith WE. SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis. J Mol Diagn. 2015;17(6):689-94. doi:10.1016/j.jmoldx.2015.07.002. Epub 2015 Aug 28. PMID: 26321041.
Assay limitations: Help
Limitations, including allele dropout due to exon deletion or SNP underlying the PCR primers represent less than 1% of cases.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Software used to interpret novel variations Help
SIFT, Polyphen, Align GVGD, NNSPLICE, MaxEntScan, SSF, Human Splicing Finder

Laboratory's policy on reporting novel variations Help
Novel variations are communicated typically by routine report with telephone support as needed.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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.