Diagnosing Alpha-1

Diagnosing Alpha-1

Who Should be Tested?

The Alpha-1 Foundation encourages testing for Alpha-1 among those at high risk for this genetic disorder. Early diagnosis can help someone with Alpha-1 to consider different lifestyles, professions or other personal decisions that could maintain or improve their health.

The World Health Organization (WHO), the American Thoracic Society (ATS), the European Respiratory Society (ERS), and the Alpha-1 Foundation’s Medical and Scientific Advisory Committee (MASAC) recommend that anyone diagnosed with the following diseases should be tested for Alpha-1:

  • Chronic Obstructive Pulmonary Disease (COPD)
  • Emphysema
  • Bronchiectasis
  • Chronic bronchitis
  • Asthma that is incompletely reversible after aggressive treatment
  • Chronic liver disease
  • Unexplained liver disease in infants and children
  • The skin disease panniculitis

How to Test

It is critical to remember that Alpha-1 cannot be diagnosed by symptoms or by a medical examination alone; only a blood test will confirm Alpha-1. Testing can be conducted on a blood sample (blood draw or finger stick test). You can order a blood test to rule out Alpha-1 when doing routine blood work on your patients. The diagnosis code for Alpha-1 is 273.4. Testing for Alpha-1 is simple, quick and highly accurate.


Free Testing

Testing in Floridaplus

Florida Health Alpha-1

The Florida Department of Health and Human Services, the Alpha-1 Foundation and the University of Florida College of Medicine sponsor an awareness, screening and detection program for Alpha-1. The program is free to Florida residents. It is administered through doctors’ offices using a finger stick test available from the Alpha-1 Foundation. Test results are mailed directly back to the doctor.

The Alpha-1 Foundation Alpha-1 Detection Lab is located at GeneAidyx in Alachua, FL. Mark Brantly, MD, has directed the lab since 1998 and the lab has done all testing for the State of Florida Alpha-1 Detection Program since 1999.

For test kits, contact Laura Pearson at the Foundation, toll free at (877) 228-7321 ext. 250 or by email at For test results, contact the lab at (866) 522-0692 or

Test Kits from Industryplus

To order free test kits:

Confidential Testingplus

Many people at risk for Alpha-1 delay being tested due to concerns about privacy of test results. The Alpha-1 Foundation supports a confidential opportunity to be tested for Alpha-1 through the Alpha-1 Coded Testing (ACT) Study. This research study is conducted at the Medical University of South Carolina (MUSC) and examines people’s thoughts and feelings about the risks and benefits associated with learning genetic information. Testing through the ACT Study is free and confidential.

You’ll be directed to an application for a free, confidential test kit for Alpha-1 provided by the Alpha-1 Coded Testing (ACT) Study – an Alpha-1 Foundation-supported program run by the Medical University of South Carolina.

For more information, contact the Alpha-1 Research Registry Program at MUSC toll-free at (877) 886-2383 or


Genetic Counseling

For information on the Alpha-1 Foundation Genetic Counseling Program at the Medical University of South Carolina, call (800) 785-3177 or click here.


Testing guidelines for different settings

The Alpha-1 Foundation has developed guidelines for the best testing practices in a variety of clinical settings. The guidelines are intended to help the medical community, individuals, and industry to understand how testing should be conducted, to ensure the most appropriate and efficient testing methods are used, and to protect patients rights and confidentiality.


Laboratory Results

Historically, early testing was performed using serum protein electrophoresis (SPEP). While widely available and easy to perform, this test is quite inaccurate compared with more specific tests currently available. However, if an SPEP is performed for other reasons and the results demonstrate an absent or decreased alpha-1 band, further testing for the deficiency of alpha-1 antitrypsin (AAT) is definitely indicated.

The most widely available and least expensive specific test for Alpha-1 is the AAT serum level. This test, when performed correctly, can easily detect the most common forms of severe deficiency of AAT. There are problems with level testing however. First, level testing will not provide a definitive result in individuals who carry only a single abnormal AAT gene. In addition, there are some abnormal AAT genes that produce relatively normal levels of a defective protein and AAT level testing will miss these as well.

Finally, there is the issue of units of measurement. While some laboratories report their results in milligrams per deciliter (mg/dl) others report their results in micromoles (µM). In Europe, levels are often expressed as grams per liter (G/L). A number that represents a normal level in one unit of measurement could be significantly abnormal in a different unit. It is important to note both the units of measurement and the laboratory’s normal range when interpreting an AAT serum level (see table 1).

TABLE 1 – AAT Serum Levels

Units of Measurement
Example Normal Range*
> 22
Example Abnormal Result
Example Normal Result

*actual normal ranges vary from laboratory to laboratory

Further testing, beyond a simple serum level, is indicated if:

  • Identification of carriers of a single abnormal gene is desired (as in family screening)
  • The patient’s presentation is unusual (as in early onset pulmonary emphysema with a normal AAT level)
  • Confirmation of an abnormal level result is desired (an abnormal level should almost always be confirmed by a subsequent testing method)

Such further testing generally involves either phenotyping or genotyping. Phenotyping is identification of the type of circulating AAT protein by isoelectric focusing of the various isotypes of AAT in blood, plasma, or serum. Genotyping, as it is currently applied, is identification of abnormal AAT DNA by using specific probes designed to flag the most common deficient genes.

While genotyping is efficient and automated, it can only identify genes for which probes have been made. Thus, rare abnormal genotypes of AAT can be missed. The potential problem with phenotyping is that proper interpretation of phenotyping gels requires much experience. Phenotyping, when performed by an experienced scientist, is the most direct method of identifying carriers and deficient individuals, especially those with rare or unusual mutations of the AAT gene. Even so, individuals with Null genes (one of a series of AAT gene mutations that leads to the production of no detectable AAT protein) will be missed using genotyping and can often be missed without specific Null probes during genotyping.

TABLE 2 – Samples required

Type of specimen
Tube of blood
Yes 1
Dried blood spot
Yes 2
Yes 3
Buccal swab

1 Requires fresh specimen
2 Level is used for internal confirmation of result
3 Possible but not commonly done

Read patient information on testing here.