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Jen, Since they did the three levels of testing at Quest that is similar to what we do here so I do not see any advantage to doing our test. Their first level is not that comprehensive and that is what is often done. Steve Mom2Owen At Ambry we only report polymorphisms if they are requested...

Aleksandra, I cannot comment on the medical presentation and interpretation from your physicians. I can tell you that the 3849+10kb mutation does tend to be a little milder and not a classic mutation so patients who have this as one of their mutations usually don't present with classic CF...

I cannot access the thread so I will answer the pending questions as soon as the thread is restored. Steve

I cannot access the thread so I will answer the pending questions as soon as the thread is restored. Steve

I cannot access the thread so I will answer the pending questions as soon as the thread is restored. <br /> <br />Steve

Sorry for the delays. I have been traveling much of the last month and trying to catch up in the office. I will get to all you answers over the next day or two. Thanks for your patience. Steve

Mom2Owen See answers below, When you do gene sequencing, do you look at everything that makes up a person's gene by itself or do you compare what that person has in relation to the gene mutations you know about? We look at the sequence of the patient compared to the normal sequence. Anything...

Valshingle, I do not know what class it is in, and we only have a couple of other patients with that mutation. It appears that both mutations are classic CF mutations so i would expect a typical CF presentation. The thing to remember is that all mutations are variable and there is no way to...

G542X (c.1624G>T) ; L671X (c.2012delT) Help single mum plse.... KatnAshlee We have never seen the L671X mutation but I would expect that combination to be a severe classic presentation since they are both stop codon mutations. Whether or not it has been seen really doesn't matter in that...

Jackie, I am not certain if this has been proven but I have seen it classified as a Class I mutation. It is a frameshift mutation but causes a stop codon further down in the gene from the mutation. that is typical of most frameshift mutations and also explains why most of them are severe. Steve

Mom to Bill It appears that both mutations are classic CF mutations so i would expect a typical CF presentation. The thing to remember is that all mutations are variable and there is no way to predict how any one combination might present. In addition, even two people with the exact same...

hana, Sorry I missed your question. I have only seen a couple of patients with that mutation and a form of CF so I really can't make an assessment. The thing to remember is that all mutations are variable and there is no way to predict how any one combination might present. In addition, even...

ENaC analysis? Jeannes Ambry does not offer enac testing and I am not aware of this being done outside of research. Steve

Jeanne. We have never seen this mutation so I am unable to provide any additional information at this time. You will just need to see how he does over time since regardless of the mutations there is always variability even in the same mutations. Steve

G542X (c.1624G>T) ; L671X (c.2012delT) Help single mum plse.... Kat Both of those mutations are considered severe or classic cf mutations. The fact that she is pancreatic insufficient fits with this combination. One thing to remember is that all kids are different even if the mutations are...

I have 14 patients with that combination in the Ambry database and if you add Conner that makes 15 that I know of. I hope that helps you. best of luck, Steve

I cannot speak about what is done in another laboratory. if you want to email me at my ambry email I can check on your son's test. thanks, Steve

I wanted to wish everyone a Happy and hopefully Healthy 2011. Steve

Gunhild, The two mutations are different but act in a similar way. They are both milder mutations which may not even cause symptoms in many people. Twodogstudio, Any of the drugs that target a particular mutation would be useful for anyone who carries at least one of those mutations. Not...

Marisa and London Fog, deltaF508, L732X and 394delTT are all typical CF disease causing mutations. L997F is a more moderate mutation which often results in milder symptoms and later onset. You can never predict exactly what will happen since all patients are different and even two people in...