Hello, looking for information on the Ambry Amplified blood test. I adopted my 7 year old DD from China 4-2013 and she recently was diagnosed with CF. However the Doctor is waiting for a 100 % confirmation on this through the Ambry testing. DD first round of testing came back negative. Not sure how far they looked. She has had 3 sweat test done with 3 different results. 70, 59, and 22. Confusing right? Anyway she has many other symptoms of CF so she was diagnosed. My question is because she is Chinese and this is the one population that is least likely to have CF Is the Ambry test the most extensive testing available for diagnosing CF? Not much information is available on Chinese people with CF as it is so rare. But the few things I have stumbled upon say the people who have been confirmed through blood work show they have 2 novel genes. Has anyone heard of this? Of course I will be so happy if the testing comes back negative, but I want to make sure there is nothing else I should be pushing for to diagnose her correctly. If I am explaining any of this wrong please excuse me, this is all very new to me.
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Ambry Amplified testing????
- Thread starter Mama Bean
- Start date
I would ask for the zambey amplified plus deletions and duplications. On the Ambry website they explain the different CFTR tests that they offer.
Hello, looking for information on the Ambry Amplified blood test. I adopted my 7 year old DD from China 4-2013 and she recently was diagnosed with CF. However the Doctor is waiting for a 100 % confirmation on this through the Ambry testing. DD first round of testing came back negative. Not sure how far they looked. She has had 3 sweat test done with 3 different results. 70, 59, and 22. Confusing right? Anyway she has many other symptoms of CF so she was diagnosed. My question is because she is Chinese and this is the one population that is least likely to have CF Is the Ambry test the most extensive testing available for diagnosing CF? Not much information is available on Chinese people with CF as it is so rare. But the few things I have stumbled upon say the people who have been confirmed through blood work show they have 2 novel genes. Has anyone heard of this? Of course I will be so happy if the testing comes back negative, but I want to make sure there is nothing else I should be pushing for to diagnose her correctly. If I am explaining any of this wrong please excuse me, this is all very new to me.
LittleLab4CF
Super Moderator
Ambry's CF tests usually are very thorough unless insurance or the doctor who ordered it cuts back on a comprehensive test. Call up Ambry with your child's test results in hand and you will get a concise and understandable answer. Your baby's doctor had to order the suite of tests from Ambry. There is no reason to do a short panel. If CF is suspected, a full genetic panel will be done, sooner or later. It is a waste by all measures to short a CFTR mutation test.
Make certain your bundle of love isn't harboring some more common Chinese health issues. TB and its nasty sidekick histoplasmosis run rife in China. I spent a reasonable amount of time in China and had myself tested about twice a year. After eleven years of negative tests I was surprised. I am also fine now but my cautionary tests weren't just rampant hypochondria. Seventy percent of local Chinese applicants showed TB on chest x-ray. As invasive and horrid a chest X ray was for employment, nobody local would have ever past a skin test.
As far as tests for CF, give it time, they are just tests and your DD's healthcare is the prize for your focus. The full amplified CF panel done by Ambry covers about 2,400 mutations. As much as you really should feel grateful the genetis was benign, if DD is symptomatic, being told it isn't CF is shallow consultation.
Obtain the best copy of your Ambry report. If it appears to be a copy of a bad fax, hard to read, let everybody know you expect an original quality copy. It will be brought into hades in an ice boat. In spite of this little idiocy, Ambry will do what is requested by the doctor and unless your DD has no potential CF symptoms or such, it should be comprehensive. As a warning, there are "short assays" so if your doc says 256 mutations or 1100, they aren't complete.
You can be 100% guaranteed genetically CF and never know it. Or as in 1950 when when I was born, a CF baby's lifespan was measured in hours. You have undertaken a witness project and her first "reward" was a smile.
999
LL
Make certain your bundle of love isn't harboring some more common Chinese health issues. TB and its nasty sidekick histoplasmosis run rife in China. I spent a reasonable amount of time in China and had myself tested about twice a year. After eleven years of negative tests I was surprised. I am also fine now but my cautionary tests weren't just rampant hypochondria. Seventy percent of local Chinese applicants showed TB on chest x-ray. As invasive and horrid a chest X ray was for employment, nobody local would have ever past a skin test.
As far as tests for CF, give it time, they are just tests and your DD's healthcare is the prize for your focus. The full amplified CF panel done by Ambry covers about 2,400 mutations. As much as you really should feel grateful the genetis was benign, if DD is symptomatic, being told it isn't CF is shallow consultation.
Obtain the best copy of your Ambry report. If it appears to be a copy of a bad fax, hard to read, let everybody know you expect an original quality copy. It will be brought into hades in an ice boat. In spite of this little idiocy, Ambry will do what is requested by the doctor and unless your DD has no potential CF symptoms or such, it should be comprehensive. As a warning, there are "short assays" so if your doc says 256 mutations or 1100, they aren't complete.
You can be 100% guaranteed genetically CF and never know it. Or as in 1950 when when I was born, a CF baby's lifespan was measured in hours. You have undertaken a witness project and her first "reward" was a smile.
999
LL
Thanks LL for the information. My DD had a blood test while in China for TB and another skin test when we got back to the US both were negative so fingers crossed this is not the case. I was told the blood test would show if she ever had it or was even exposed. Never heard of this blood test, but is now what they are doing for adoptions in China. I think the Ambry test that she ordered is the complete one the order says CF Ambry Amplified including mutations and duplications. Hope I get approval for this by the end of this week. Thanks again for your information.