How do you test for alpha1-antitrypsin (AAT) deficiency?
Descarte a deficiência de AAT: rastreie todos os seus doentes
Como diagnosticar a deficiência de AAT
| Test | Results | Sample |
|---|---|---|
| AlphaID™ | Genotype (up to 14 alleles) | Buccal swab1 |
| Test | AlphaID™ |
| Results | Genotype (up to 14 alleles) |
| Sample | Buccal swab1 |
Se o resultado for positivo, confirme o diagnóstico com exames complementares*,2-4
Como confirmar um diagnóstico de deficiência de AAT2,3
| Test | Results | Sample |
|---|---|---|
| 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 | 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 |
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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
Detecting any deficient allele should prompt a lifestyle discussion with your patient 4,5
What happens after an AAT deficiency diagnosis
References
- 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).
- Rachelefsky G, Hogarth DK. Issues in the diagnosis of alpha 1-antitrypsin deficiency. J Allergy Clin Immunol. 2008;121(4):833-8.
- 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.
- 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.
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.