Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin (AAT) deficiency is a relatively common genetic disorder that causes a predisposition to lung and liver disease. Early awareness of this is essential to allow people to make lifestyle and treatment decisions to reduce their risk of serious health complications. We offer full gene sequencing of the gene that causes AAT deficiency, in order to empower patients and their healthcare providers to make those important decisions and plan their healthcare.  

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Quick Reference
Test Code: 1140 Test Name: SERPINA1 seq TAT 2-4 weeks Gene: 1
Test Code: 1142 Test Name: SERPINA1 specific site TAT 7-14 days Gene: 1

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Mutation Detection Rate

The clinical sensitivity of this test is dependent on variable factors such as age or family history.1 Ambry's testing can detect >99.9% of described mutations in the SERPINA1 gene, when present (analytical sensitivity).

Test Description

Full gene sequence analysis is performed by PCR-based double-stranded automated sequencing in the sense and antisense directions for each exon, plus at least 5 bases into the 5’ and 3’ ends of all the introns.

 

  1. Janciauskiene S, et al.  Clinical utility gene card for: ?-1-antitrypsin deficiency.  Eur J Hum Genet. 2011 May;19(5).

 

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