Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment

Establish or confirm diagnosis

Guidance for management

Predictive risk information for patient and/or family members

Individuals with clinical features of alpha-1-antitrypsin deficiency

Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.

Bidirectional sequence analysis is performed to test for the presence of a mutation in all coding regions and intron and exon boundaries of the SERPINA1 gene.

Positive results are confirmed when appropriate.

Tests performed
Entire test performed in-house

Sequence analysis has an analytical sensitivity of approximately 99% for nucleotide base alterations, small deletions, and insertions. Low-level mosaicism will not be detected by routine sequencing methodologies.

A small percentage of individuals who are carriers or have a diagnosis of alpha-1 antitrypsin deficiency may have a mutation that is not identified by this method (eg, large genomic deletions, promoter mutations). The absence of a mutation, therefore, does not eliminate the possibility of positive carrier status or the … A small percentage of individuals who are carriers or have a diagnosis of alpha-1 antitrypsin deficiency may have a mutation that is not identified by this method (eg, large genomic deletions, promoter mutations). The absence of a mutation, therefore, does not eliminate the possibility of positive carrier status or the diagnosis of alpha-1 antitrypsin deficiency. For testing of at risk family members, it is important to first document the presence of a SERPINA1 gene mutation in an affected family member. In some cases, DNA alterations of undetermined significance may be identified. Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in the interpretation of results may occur if information given is inaccurate or incomplete. Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered. View more

Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Platform PT performed

PT Provider: Help
Platform PT performed

Software used to interpret novel variations Help
Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, gene-specific online databases, ISCA, UCSC Genome Browser

Laboratory's policy on reporting novel variations Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.