Invitae Alpha-1 Antitrypsin Deficiency Test
Use
The Invitae Alpha-1 Antitrypsin Deficiency Test analyzes the SERPINA1 gene which is associated with alpha-1 antitrypsin deficiency. This condition increases the risk for chronic obstructive pulmonary disease, including emphysema and chronic bronchitis, as well as liver disease like jaundice and cirrhosis. It may also cause rare skin disease characterized by painful lumps. Carriers generally do not show symptoms but may have increased risk if exposed to environmental factors like smoking.
Special Instructions
This test performs full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology. It includes analysis of coding exons and adjacent intronic sequences. Contact client services for specific limitations regarding the regions or types of variants covered. This test reflects analysis from genomic DNA, and rare cases such as bone marrow transplant or recent transfusions may not represent constitutional genome.
Limitations
The assay achieves >99% sensitivity and specificity for SNVs, indels <15bp, and exon-level CNVs, but some insertions/deletions between 15bp and a full exon may have reduced sensitivity. Structural rearrangements or variants in complex sequences may not be detected. Mosaicism, phasing, or mapping ambiguity may not be resolvable. Promoter and non-coding regions aren't covered unless specified.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)