Our little one came up w/ 1 mutation , (a 25 mutation study), now they want a 85 mutation study done...has anyone had 85 tested....did another show up...?? Thank you!!! Sweat tests have come back mixed...getting one more done too. Its all so very stressful!! Now we have to wait 2 weeks for the mutation to get done!!
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Anybody have 85 mutation test?
- Thread starter anonymous
- Start date
My son came up as 1 Delta f508 and an "Unknown". They say the other mutation is an unknown because it doesn't show up on the 96 test. He has had 2 sweat test and they were 79 to 90. That was our confirmation. There is a test available that maps out over 900 of the possible unknown mutations that are very rare as opposed to 96 test. And, I think it is free for those who are symtomatic, but show only as a carrier. Your CF center should know the pharm company,. I will look for it in my files if you want. We never took them up on their offer to test because there is no reason of it yet. And we like the room for a miracle. We are still coping with the dx obvously. We know he has CF, because the way his body process salt. And his digestive tract is very Cf typical (pancratic insufficent). But as far as his fev1 Its is around 125%. The Dr say his unknown is What they consider "mild". And his Delta f508 Lets us know we need to do treatments to keep him healthy until they find a cure.
Thanks for the replies. She has had 3 sweat tests w/ mixed results, so that's why we had the 4th done yesterday. No results yet? She had a confirmed mutation when she had the 25 study done, 1898+1G A showed up, we don't know what the 85 study will show?? I'm very interested in getting that 900 study done, you said it was free?? HOw do we get it?? Can you provide the info? ThanksShe also has GERD, sinus issues and her blood tests for allergy's showed her immunoglobulin igE (E) as very high, she tested negative on all other immunoglob tests and NEGATIVE for cats/dogs/ trrees/grasses/foodweeds..we haven't met w/ the doc yet but he suspected a type of asthma (lung involvement)....so that's why he ordered the allergy blood tests. Anybody know about immunoglobulin E results??? I can't find much online about it.Can you have CF and asthma?? The doc ordered a sleep study, another video EEG (1 day) and her FEV were ok, although a little low...we didn't get much info about that. I guess they'll redo it later. The doc said, even when all these tests are done he may NOT be able to get firm answers now, it may take years. Thanks for your support.
HiHere is the info on the genetics test. Ambry Genetics Corp. (Ambry Test) Has developed a tool to test for more than 900 mutations of CF gene. Competing test on CF screen for 25 to 87 mutations. Program Contacts: James Dunlop or Chuck Champlin @ Ambry Genetics Corp. (949) 642-7202. The program offers free testing. E-mail is sswanson@ambrygeneticscorp.comThe cost is $285 Look first on their website (www.ambrygeneticscorp.com) for info. I found this info on their website over a year ago, so I'm not sure if the program is still available or not. I'm pretty sure its covered by insurance as well.Hope this helps.
Dear JoAnn and others, thanks for info on mutation testing...and for sharing and clarifing you can have CF and asthma...we didn't think you could have cf and asthma...it never crossed our minds until this week when the doc ordered all the tests again plus allergy and asthma tests (very high immungoglobulin igE (E) results...kinda blew our mind...he said...we'll see for ALL results, including sleep study..meet again after that...that's 2 months away from getting ALL the results and an answer on CF...??? Besides CF, she has mild Cerebral Palsy, ADD, possible mild Aspergers (kinda high level autism), and Post tramatic Stress. Aspergers To be determined with more testing??? Thanks for ALL your support. I've had zero family support through all this (months), but have had my husbands family, friends, church and online support 100%...so thank you VERY MUCH!!!
Hi - Just curious, ADD and Asbergerger's? Are those diagnoses from a pediatric neurologist? Just curious because my eight year old, no cf, has Sensory Integration Dysfunction. Originally, the dr.s tried to diagnose him with Asbergers and after consulting with learning specialists and Occupational Therapists, it was determined def. not Asbergers. Sensory Integration Dysfunction is quite often not acknowledged by ped. neuro.; however more and more pediatricians are becoming educated about it and the many therapies available. Obviously, I don't know your situation but I thought I would bring the subject up. Best wishes!