Discussion in 'Genetic Testing and SNPs' started by Peyt, May 4, 2017.
Can anyone tell me what is the name of the test for Alpha-1 Antitrypsin Deficiency?
Yes I just had this test done myself. My Alpha-1 and Alpha-2 were tested as part of a panel of tests called
"Protein Electrophoresis, Serum with Total Protein and Reflex to IFE, Serum"
The Alpha-1 test itself is called "Alpha-1 Globulin" on my lab sheet.
After I saw I was tested for this I looked at my 23andme results and saw that I indeed have 1 copy of the PiZ allele making me PiSZ (heterozygote and 40% reduction in Alpha-1 levels/partial deficiency) which means I "may be at increased risk of developing cirrhosis and liver failure, even in absence of identifiable co-exsisting liver disease". Although various studies have come up with differing results regarding whether or not those who are PiSZ are at increased risk. It's a really good thing I've never been a smoker tho!
It also explains why my Alpha-1 is at very lowest end of normal range. I saw that there is a push by some in medical community to push for everyone to be tested for the Alpha-1 mutations right after birth.
Thanks for your response,
So the test was called "Protein Electrophoresis"?
The one I was going to ask my Doctor about is called Alpha−1−Antitrypsin Phenoty (Sample from LabCorp's website attached)
Now I am wondering which one would cover all the basis?? Any thoughts?
My issues are: I have had over-production of mucus since I was 2 years old. Shortness of breath and CFS. Recently I have been diagnosed with mild fatty liver eventhough I don't drink. I don't smoke either. I have had re-occurring cases of bronchitis since I was young. I have had 3 deviated septum surgeries in the last 10 years to open out the flow of mucus in my sinuses(which is usually green with traces of blood) ... So far, all Doctors have said was it's allergies(and I did seek treatment that way too which did not help).....
On my list of medical tests in Ontario there is a test called the Alpha 1 Antitrysin test. It's separate from the other test mentioned above.
@Peyt That was in the name of the panel the doc ordered. In addition to Alpha-1 & Alpha-2 levels it also tested a bunch of other things. My doc was not looking at Alpha-1 specifically thus why she ran the panel.
But it looks like only the Alpha-1 test is needed so perhaps your doc can order just that test alone? And then if Alpha-1 is abnormally low I assume they would want to then do a gene test.
Hi Snowdrop, was any of your liver enzymes elevated?
TrixieStix, was any of your liver enzymes elevated?
I've never had this test.
I simply found it listed as one of the tests that are covered under Ontario health care.
From the test specification guide:
ALPHA-1 ANTITRYPSIN 555 Serum GOLD SST OHIP CML Centrifuge only TAT – 2 days
I was just responding to the question of the name of the test for deficiency.
No my liver enzymes are normal.
@Peyt "Serum alpha1-antitrypsin concentration alone has a low sensitivity for detecting AATD."
How about the genetic results or the serum alpha-1 antitrypsin?
was it normal?
@Peyt the Alpha-1 test was a blood test so assuming that means it is a serum test. No?
This excerpt explains how my deficiency was stumbled upon as it was a Protein Electrophoresis panel that I had...
"Protein electrophoresis is a test that evaluates many different proteins in the blood. Sometimes the test will detect a deficiency in AAT unexpectedly, when it is done for a different purpose. In those cases, follow-up testing for AAT may confirm a deficiency of the protein, even if there are no signs or symptoms of disease."
After I saw that my level of Alpha-1 was on the lower side I found that indeed my 23andme DNA testing shows that I am "PiSZ" so I only produce roughly 40% of normal amount of Alpha-1.
"AAT is an acute phase reactant. This means that it will be elevated in acute and chronic inflammatory conditions, infections, and with some cancers. Increased levels of AAT may also be seen with oral contraceptive use, pregnancy, and stress. These temporary or chronic AAT increases may cause levels to appear normal in people with mild to moderate AAT deficiency."
TrixieStix, thanks so much for this information... Which gene is it on 23andme that correlates to AAT? I have attached my 23andme report, I don't see any gene that starts with Pi
I had heard in the news that 23andme had just been granted FDA approval to supply customers with certain genetic risk info. So I just logged into my 23andme account and sure enough it took me thru options to see my new "Genetic Risk Variant Reports" & Alpha-1 A Deficiency is one of the things they are specifically reporting.
On my 23andme report it says one allele is at rs 28929474 & other is reported at rs17580.
Their report concurs with what I discovered on my own by running my raw genetic data from 23andme thru the "Prometheus" website.
Oh okay, I ran my data through genetic genie. I will do it in Prometheus, thank you.
With Prometheus there will be a drop down menu on right side called "Medical Conditions" and Alpha-1 is losted. Select it and it will only show you the specific snp's associated with that condition.
Okay, I see that I do not have that gene,
Thanks for letting me know about Prometheus... it makes life much easier.
You can also try a Google Site Search
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