How How

How do you test for alpha1-antitrypsin (AAT) deficiency?

Rule out AAT deficiency: screen all your patients*

How to screen for AAT deficiency

Test Results Sample
AlphaID™ Genotype (up to 14 alleles) Buccal swab1
Test AlphaID™
Results Genotype (up to 14 alleles)
Sample Buccal swab1

If the result is positive, confirm the diagnosis with additional testing*,2-4

How to confirm an AAT deficiency diagnosis2,3

Test Results Sample
AlphaKit®
  • Genotype (up to 4 known alleles)
  • Phenotype of protein
  • AAT levels
DBS
Nephelometry (preferred), rocket immunoelectrophoresis, or radial immunodiffusion AAT levels Blood, serum or plasma
Direct sequencing Rare alleles Blood, serum or plasma
Isoelectric focusing Phenotyping of AAT Blood, serum, plasma or DBS
Test AlphaKit®
Results
  • Genotype (up to 4 known alleles)
  • Phenotype of protein
  • AAT levels
Sample DBS
Test Nephelometry (preferred), rocket immunoelectrophoresis, or radial immunodiffusion
Results AAT levels
Sample Blood, serum or plasma
Test Direct sequencing
Results Rare alleles
Sample Blood, serum or plasma
Test Isoelectric focusing
Results Phenotyping of AAT
Sample Blood, serum, plasma or DBS

how video

New to testing?

How callout

GRIFOLS provides free comprehensive analysis, from screening to diagnosis§

How to learn

To learn more about AAT deficiency or to inquire about testing in your country, click here
 

How list

Alpha1-antitrypsin (AAT) deficiency diagnosis: next steps

Once you’ve confirmed a diagnosis, consider the following:

  • Familial genetic screening2,4,5
  • Genetic counselling2,4,5
  • Smoking prevention or cessation5,6
  • Avoidance of occupational respiratory pollutants5,6
  • Optimisation of COPD treatment for your patient2,4,5
  • Augmentation therapy, the only specific treatment for AAT deficiency2,4,5

How callout 2

Detecting any deficient allele should prompt a lifestyle discussion with your patient 4,5

How video 2

What happens after an AAT deficiency diagnosis

How AAT

*As compared to diagnostic testing in affected individuals, targeted, predisposition screening can identify individuals with increased risk (predisposition) of genetic disease. A point of care test can be done using a DBS to detect the presence or absence of the PiZ genetic variant only.

Commercially available standards for radial immunodiffusion can overestimate AAT concentrations by as much as 35-40%.4

Because AAT is an acute phase reactant, serum levels without measuring c-reactive protein levels can be misleading.2

§Screening services are provided by Grifols free of charge and may not be billed to the healthcare provider, the hospital or institution, the patient or their insurers. Grifols screening services and the associated test results and analysis are provided by a certified alpha-1 reference lab. Screening is available in some countries and times may vary. Contact a Grifols representative for more information. AlphaIDTM and AlphaKit® are Medical Devices with CE mark according to current EU legislation.

AAT: alpha1 antitrypsin; COPD: chronic obstructive pulmonary disease; DBS: dried blood spot.

How referenzes

References

  1. Belmonte I, Barrecheguren M, Esquinas C, et al. Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples. Clin Chem Lab Med. 2017;55(9):1276-83.
  2. Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency. European Respiratory Journal. 2017;50(5).
  3. Rachelefsky G, Hogarth DK. Issues in the diagnosis of alpha 1-antitrypsin deficiency. J Allergy Clin Immunol. 2008;121(4):833-8.
  4. ATS, ERS. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900.
  5. Campos MA, Wanner A, Zhang G, et al. Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003. Chest. 2005;128(3):1179-86.
  6. Bals R, Koczulla R, Kotke V, et al. Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program. Respir Med. 2007;101(8):1708-14.