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Alpha-1 Antitrypsin Deficiency via the SERPINA1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7813 SERPINA1 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7813SERPINA181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Testing run on PG-Select capture probes does not include exome-wide CNV analysis. Reflex is available to PGxome or an exome-based panel, or you can use this gene list to create a custom panel (click here).

Click here for costs to reflex to whole PGxome.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Chansonette Badduke, PhD

Clinical Features and Genetics

Clinical Features

Alpha-1 antitrypsin deficiency primarily affects the lungs and liver (Crystal 1990; Stockley et al. 2014). Patients commonly develop lung disease by the third to fourth decade, which is characterized by emphysema including difficulty breathing, a hacking cough and a barrel-shaped chest. Liver disease is less common, and presents with jaundice and cholestasis in children and cirrhosis in adults. In some rare cases, patients can develop a skin condition called panniculitis. Onset age and severity of different signs and symptoms vary greatly among patients depending in part on genotype.


Alpha-1 antitrypsin deficiency is an autosomal recessive disorder caused by SERPINA1 pathogenic variants (Medicina et al. 2009; Ferrarotti et al. 2014). The SERPINA1 gene has 4 coding exons that encode alpha-1-antitrypsin (AAT), also known as protease inhibitor (PI), a major plasma serine protease inhibitor. Genetic defects of SERPINA1 found to date include missense, nonsense, splicing mutations, and small and large deletions (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

Detection rate of pathogenic variants in the SERPINA1 gene in a large cohort of patients with alpha-1 antitrypsin deficiency is unknown in the literature because only a limited number of cases have been reported, but is expected to be high via Sanger sequencing since large deletions appear to be rare. SERPINA1 is the only gene known to be involved in this disorder.

Testing Strategy

This test provides full coverage of all coding exons of the SERPINA1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with alpha-1 antitrypsin deficiency. Testing is also indicated for family members of patients who have known pathogenic variants in the SERPINA1 gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SERPINA1.


Official Gene Symbol OMIM ID
SERPINA1 107400
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Alpha-1-Antitrypsin Deficiency AR 613490


  • Crystal RG. 1990. The Journal of Clinical Investigation. 85: 1343-52. PubMed ID: 2185272
  • Ferrarotti I., Carroll TP. 2014. Orphanet Journal of Rare Diseases. 9: 172. PubMed ID: 25425243
  • Human Gene Mutation Database (Bio-base).
  • Medicina D. et al. 2009. Human Mutation. 30: E771-81. PubMed ID: 19437508
  • Stockley RA., Turner AM. 2014. Trends in Molecular Medicine. 20: 105-15. PubMed ID: 24380646


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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