Testing for alpha-1 antitrypsin deficiency?
November 4, 2007 8:36 PM   Subscribe

Where can I get anonymous testing for an easily-checked but unusual genetic disorder in area codes 415, 650, or 408?

A blood relative of mine has been diagnosed with alpha-1 antitrypsin deficiency. She has emphysema from this. I would like to get checked for it but would prefer not to have the record enshrined in my medical history, nor would I like to travel to South Carolina for the ACT test.

The NIH says the blood test is both easily done and underutilized, so the procedure itself isn't too obscure.
posted by anonymous to Health & Fitness (3 answers total)
It's easily done and underutilized, but it's not particularly cheap. It's also not a yes/no result, there are different mutations, varying degrees of severity, etc. So it's not as easily checked as you'd have it be; you're paying not only for a test but for expert interpretation of the results. That suggests that you need a geneticist. A responsible doc won't undertake this kind of testing without counseling you what the implications are for you, your privacy, and your future.

If you decide to go this route and you really don't want a record of it, you're probably going to need to self-pay for the doctor visit and the test. Insurance companies like to know what they're paying for and you're not going to be able to con them into paying for this without generating a record of it. It's going to cost you a considerable amount of money, probably a couple thousand dollars minimum.
posted by ikkyu2 at 8:54 PM on November 4, 2007

Get in touch with a geneticist at UCSF or Stanford's medical school and find out how they would approach this type of testing. You might also speak to someone at the Alpha One Foundation.
posted by OlderThanTOS at 10:21 PM on November 4, 2007

Agree with the just of what ikkyu2 said as usual, but having skimmed the Alpha-1 Foundation web site, it seems like the folks at MUSC might not require that you actually travel there, and offer free, confidential testing for research purposes. I could be wrong about the travel, and you may have contacted them, but if not contact the Alpha-1 Research Registry Program at MUSC at 1-877-886-2383 or alphaone@musc.edu.
posted by drpynchon at 10:38 PM on November 4, 2007

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