Genetic Testing

[Linda Burke]

The Foundation for Children with atypical HUS currently works with the University of Iowa to offer genetic testing to determine the particular mutation(s) affecting patients and their families. Visit the University of Iowa's website at www.healthcare.uiowa.edu/labs/morl . There is a link under "Kidney Disease" for a Testing Requisition Form, as well as instructions for Sending a Sample. Blood samples may be drawn at the local facility of your choice, with the 8-10 cc of blood drawn into a lavender top tube and sent via overnight transport to the Univerity of Iowa. On the requisition form, there is a place to indicate where the results should be sent as well as a place for billing information. The University does NOT bill the insurance company directly. Instead, the medical facility must bill the insurance company. The Foundation does have a mechanism in place for addressing a hardship case to cover their testing costs. Please email Bill Biermann, Foundation Director, at [e-mail] for details.

[Svetlana Finley]

I just got e-mail about Anna's results and are back and they all normal for factor B , factor H, and for CD46 molecule which is another protein. Our DR. wants to know if there any more genetic testing for less common complement abnormalities? Is there anyone that are diagnose with AHUS and their testing came normal?
Thanks
Sveta

[Jodi Kayler]

See the Soliris Forum, I added a comment about this.

Svetlana Finley said:

I just got e-mail about Anna's results and are back and they all normal for factor B , factor H, and for CD46 molecule which is another protein. Our DR. wants to know if there any more genetic testing for less common complement abnormalities? Is there anyone that are diagnose with AHUS and their testing came normal?
Thanks
Sveta

[Joy Lewis O'Brien]

I know several people on this site have mentioned that they have or are considering having siblings tested for any genetic mutations. There are so many factors that go into that decision, but I just found some information that affects one of the factors. Insurance companies are legally not allowed to discriminate/discontinue coverage based on the results of a genetic test. More information can be found here. I do not know if this includes life insurance or just health insurance, but thought it might be useful to some of you.

[Christy]

Svetlana--not sure if I already replied to you on this or not...all of Aiden's genetic testing was normal too....

Svetlana Finley said:

I just got e-mail about Anna's results and are back and they all normal for factor B , factor H, and for CD46 molecule which is another protein. Our DR. wants to know if there any more genetic testing for less common complement abnormalities? Is there anyone that are diagnose with AHUS and their testing came normal?
Thanks
Sveta

[Cheryl Biermann]

New testing is being developed all the time, keep watching - remeber that approx. 50% are idiopathic, which means we need to look deeper. If any new testing becomes commercially available, we'll do our best to find it and refer everyone there. In the meantime, the U of Iowa does have the most comprehensive testing that we've found.

[Svetlana Finley]

Our doctor did contact Dr.Smith for other testing, but he replied with suggestion that we just wait for research to start, then they will do other testing.

[Kamal D Shah]

I had my blood tested at a lab in the UK a couple of years back. They said they could not find mutations related to Factor H, Factor I and MCP. I have been considering sending my samples to Italy for testing for the remaining mutations.

My main purpose behind getting myself tested for the remaining mutations is that I am seriously considering a second transplant (my first failed due to recurrence of HUS).

What I want to know is if I get tested for the remaining mutations, how is it going to help me in deciding about a transplant especially given that I have been found not to have Factor H, Factor I and MCP, the most common known mutations.

I am exploring Soliris but from what I know, Soliris works as well in all known mutations. Also, if irrespective of the remaining mutations being present or absent, if I have to undergo plasma exchanges before, during and after my transplant, what use is it to know which mutations I have?

Thanks
Kamal

[Joy Lewis O'Brien]

Kamal, also, there was an article published last fall (by Dr. Remuzzi et al) that talks about the success/rate of recurrence for transplants broken out by the different mutations. It's well worth a read for anyone considering transplant because it's a good guide as to which mutations make for a good candidate and which aren't. The article is posted here in the research forum: http://www.atypicalhus.org/forum/topics/current-research?commentId=...

Kamal D Shah said:

I had my blood tested at a lab in the UK a couple of years back. They said they could not find mutations related to Factor H, Factor I and MCP. I have been considering sending my samples to Italy for testing for the remaining mutations.

[Kamal D Shah]

I agree Cheryl. The only problem is sending the samples to Italy from India is turning out to be tougher than I thought. There are a whole lot of clearances to be taken. The folks here are also not very proficient in preparing the buffy coat, something I was asked to send. But I wrote to the Italy lab and they said buffy coat is not essential. So, I am planning to give this another shot.

Thanks!

Cheryl Christine Pallme Biermann said:

Kamal, If you look at the Soliris forum, you will find patients who are benefitting from Soliris treatements who are also idopathic. So I wouldn't let not knowing your specific mutation hold back your plans. However, I would encourage you also to have the most compehensive testing currently available even if it all comes up negative, it will be adding to the pool of knowledge for researchers and may contribute to developing further testing; good luck.

Kamal D Shah said:

I had my blood tested at a lab in the UK a couple of years back. They said they could not find mutations related to Factor H, Factor I and MCP. I have been considering sending my samples to Italy for testing for the remaining mutations.

My main purpose behind getting myself tested for the remaining mutations is that I am seriously considering a second transplant (my first failed due to recurrence of HUS).

What I want to know is if I get tested for the remaining mutations, how is it going to help me in deciding about a transplant especially given that I have been found not to have Factor H, Factor I and MCP, the most common known mutations.

I am exploring Soliris but from what I know, Soliris works as well in all known mutations. Also, if irrespective of the remaining mutations being present or absent, if I have to undergo plasma exchanges before, during and after my transplant, what use is it to know which mutations I have?

Thanks
Kamal

[Kamal D Shah]

Hi Joy, yes I did read the article. I am negative for Factor H, I and MCP. For the rest, the data is hardly anything significant. There have been a very few cases. I am not sure if a decision can be taken based on this. I am however in touch with the team at Bergamo. Perhaps, when the results are known, they may be able to advise me.

Thanks!

Joy Lewis said:

Kamal, also, there was an article published last fall (by Dr. Remuzzi et al) that talks about the success/rate of recurrence for transplants broken out by the different mutations. It's well worth a read for anyone considering transplant because it's a good guide as to which mutations make for a good candidate and which aren't. The article is posted here in the research forum: http://www.atypicalhus.org/forum/topics/current-research?commentId=...

Kamal D Shah said:

I had my blood tested at a lab in the UK a couple of years back. They said they could not find mutations related to Factor H, Factor I and MCP. I have been considering sending my samples to Italy for testing for the remaining mutations.

[Kristina]

Im very excited as we found a time frame between Matt being sick and his vaccines to be able to take blood samples and send them for testing a couple of weeks ago. These were ordered way back in December. I am also excited that the Childrens Hospital we have been going too has opened up much better to communication and they sent his blood samples to Iowa. We go for a check up with the kidney Dr in a couple of weeks and hope we have some answers.We had them test for the Factor H, I and MCP gene. I wasnt for sure how long it takes to get results, but I hope to know something when we go for the check up. This website has been so wonderful with lots of information to me as a parent. A Big Thank You for the work everyone puts into it.

[Cheryl Biermann]

Wonderful, but the time frame for receiving information back from testing can vary, if there are no insurance problems it usually takes much less time. If your insurance balks, (which most do not), it can take longer. I have noticed the military insurance is slower in accepting charges for these tests.

Kristina said:

Im very excited as we found a time frame between Matt being sick and his vaccines to be able to take blood samples and send them for testing a couple of weeks ago. These were ordered way back in December. I am also excited that the Childrens Hospital we have been going too has opened up much better to communication and they sent his blood samples to Iowa. We go for a check up with the kidney Dr in a couple of weeks and hope we have some answers.We had them test for the Factor H, I and MCP gene. I wasnt for sure how long it takes to get results, but I hope to know something when we go for the check up. This website has been so wonderful with lots of information to me as a parent. A Big Thank You for the work everyone puts into it.