Update on Testing for Alpha-1 Antitrypsin Deficiency in Canada

Posted: February 16 2010

 

You may have heard that over the last number of months getting a phenotype test for Alpha-1 has become very difficult in Canada.

 

Testing for alpha-1 antitrypsin deficiency: Measurement of AAT level is the first step   The diagnosis of A1AD relies on demonstration of low plasma concentration of AAT, followed by (when low) either observation of a deficient variant of the protein AAT by protease inhibitor (PI) typing, genotyping or detection of mutations in both copies of the gene SERPINA1, which encodes AAT. PI*Z is the most common deficiency allele. Ninety-five percent of A1AD results from the presence of two Z alleles.   Phenotyping or genotyping are usually done only when previously measured AAT is 1.5 g/L or less (or below the normal mean for the testing laboratory), OR the patient is a first-degree relative/spouse of a known AAT deficient subject. A request for PI typing when ordered separately should specify the previous result or the subject’s name and relationship for phenotyping to proceed.

Phenotyping is only done after a person’s alpha-1 antitrypsin (AAT) level has been measured and found to be low. Testing of AAT levels continues to be easily available throughout Canada. (See: “Testing for alpha-1 antitrypsin deficiency: Measurement of AAT level is the first step” on the right side of this page).

 

The lab in Canada that performed the test was Dr. Diane Cox’s research lab at the University of Alberta (U of A). The U of A decided that they were in the research business, not the diagnosis business and told Dr. Cox to stop doing this test as well as one for another rare disease.

 

Almost every organization with an interest in Alpha-1 has been scrambling to get the U of A to change its mind or come up with an alternative.

 

Alpha-1 Canada continues to try to convince the University to start doing the tests again. The board and Medical Advisory Board have spent countless hours on this issue and written to the University but to no avail.

 

We are pleased to announce that, although the efforts to change minds at the U of A continue, Talecris Biotherapeutics  has come up with an alternative.

 

Talecris, the makers of Prolastin®, have developed and received government approval for an Alpha-1 test kit.

 

Once your doctor has determined that your AAT level is low (1.5 g/L or less, or below the normal mean for the testing laboratory) he or she can call the bilingual call-centre at 1-877-3 ALPHA1 (1-877-325-7421), to order a test kit. Once your doctor receives the kit, three dry blood drop samples are taken then mailed to a testing facility at the University of Florida. Within two to three weeks the doctor will receive the results through the mail.

 

It is important to understand that while your personal information and test results will only be divulged to your doctor, unlike test kits that were available a few years ago, these kits are not anonymous. Since the kits and results can only be sent to your doctor, he or she will place your results in your medical file (please see our web page on “Ethical Issues” to learn the implications of this fact. 

 

Talecris provides the specimen collection kit (including a postage paid mailer pre-addressed to the testing facility) and the testing services of the University of Florida Alpha1 Lab at no charge. We congratulate and thank them for their speedy solution to this problem.

 

This program is being managed and operated for Talecris by third parties; Talecris will not have access to anyone’s test results.

 

Early detection of Alpha-1 is critically important. Once you know you have Alpha-1 you can make important lifestyle changes and receive treatment from your doctor to slow the progression of the disease. The only way to detect Alpha-1 is through testing. We encourage you to take charge of your healthcare, take advantage of this speedy, easy process and contact your physician with this critical new information. Whether you have been diagnosed or are awaiting testing please keep your physician informed. Print this page and bring it with you to your next doctor’s appointment. And please, inform your close blood relatives that testing and diagnosis is now quick, easy and free.

 

Should you have any questions do not hesitate to contact Jim at 1-888-669-4583 or jim.mundy@alpha1canada.ca.