Welcome Ambry Genetics

[StevenKeiles]

Casey's mom,

The F508C appears to be a very mild mutation that has been associated with male infertility (not an issue for your daughter) and in some cases very mild pulmonary involvement. I would not expect severe disease and it is unlikely it would progress beyond the mild stage. I think it is important to know that she is at an increased risk to develop infections and or pancreatitis during her lifetime. But overall I would expect someone with this combo to do very well.

Steve

 

[StevenKeiles]

Kaylins Mom

It is also possible that her issues are not CF related at all and just a coincidence that she is a carrier. I would check to make sure she did have a comprehensive test to be sure there is just one mutation. If that is the case, it is possible that her asthma or other issues may be made worse because she is a CF carrier, but it is not likely that just being a carrier will cause any issues. I believe that being a carrier may make you more prone to having issues but that something else must be going on for those problems to actually develop. Just my opinion.

Steve

 

[StevenKeiles]

Shameh,

The new category that is now used is called CRMS and it stands for cystic fibrosis related metabolic syndrome. Basically this is for newborns who screened positive but do not have any symptoms yet.

If the child was fully tested (including gene sequencing) and he just had one mutation and everything else is normal, then he is just a carrier and does not have CRMS.

R117H is just one of many mutations and it also happens to be a very mild mutation. I would check to see if sequencing was actually done and also what the sweat test levels were to see if there is still some possibility of CF related problems.

best of luck,

Steve

 

[mom2caseyafrica]

Thank you for your info Steve. I am very interested in genetics and having being studying CF since I was a teenager. Now that I have a daughter, and oddly enough she has CF, I want even more to go into genetic researching and study the genetic side of cf. Do you have any advice on how I can get into that field of work while I try to get back into school? Are there any jobs in this field I can start out with since I do not yet have a degree?

 

[mom2cameron]

Ive posted about my son here before but we only knew one of his mutations then. We had an Ambry test done and now know both mutations. The one that was picked up on the newborn screening test was 2307insA and they other one found out by Ambry is 2184insA. Any info on these two put together or what we should expect to see as a result? Thanks so much!

 

[mlag2010]

Hi Steve,
My daughter newborn screen came back with a high irt level. I have already seen symptoms of possible digestive issues, i.e. water stools that feel filmy when you touch the surface of it. Lack of weight gain took her three weeks to put on 6 oz's to bring her back up to her orig. birth weight of 7lbs 8oz's. She went back to the ped today after being there monday (rechk) stools are without improvement and her weight remained 7lbs 9oz's same as mondays weight. I have also noticed that she coughs every once in a while.. and after my mil had gotten her to settle and go to sleep on her belly when she woke up... she appeared to have a slight drippy nose..this I didn't see. I was at an appt. with my older daughter... no signs of Cf in her and newborn screen was not pos. Neither of our families are aware of any history or had any knowledge that we could be carriers. So my question is are all these symptoms together a reason to go ahead with the further genetic testing Ambry would do. Her scores for her first sweat test were 31 and 35 which is higher apparently than what they want to see. I have posted to the forum here under families and several have indicated that the sweat tests are not accurate in newborns. Also they have a working diagnosis of a milk protein allergy but we have seen little improvement with switching to soy form, as well she is b.f. Stools cont. to feel filmy and were clear of blood. But my husband and Mil decided to see if giving her eagles brand condensed milk sweetened condensed would help her stools. It hasnt and I'm guessing that is the reason for the blood to have returned. I called to schd another sweat test... and it is being schd'd for the 29th of June (tuesday) and I will be taking myself and my two girls to the genetics appt following the sweat test. Should I push for further testing if the sweat test still comes back higher than what they want. Do I need to see a GI specialist or should I hold off?? I need help?? My daughter was also already born with complications (pos related or unrelated) a renal vein thrombosis and this induces hypertension her left kidney may have to be removed.. depending on whether it recovers full funct. or not. Any advice you can offer would be greatly appreciated.. A mom trying to do what is best and necessary for her baby girl 1 mon and 1 day old!!

 

[StevenKeiles]

Mom2casey
I would contact your local CF center and speak to someone there who is doing research to see if you can volunteer or even get a job in the laboratory. If there is no research being done there, you should look at the local university medical centers. Good luck,

Mom2cameron

As with all mutations it can be variable so there is no way to predict exactly how things will be in the future. This combination could be anywhere from moderate to more severe disease. Only time will tell. Best of luck to you and Cameron.

Steve

 

[StevenKeiles]

mlag2010

I do not know what state she was born in so I do not know if there was any genetic testing already performed and if so what exactly was done. If a newborn had a sweat test over 30 that is considered positive and should have genetic testing and in my opinion it should be a comprehensive sequence analysis like the Ambry CF Amplified test and not just a mutation panel. Ambry is not the only lab that can do a test like this.

It may not be CF, but having the genetic results will go a long way in helping figure out what the problem is.

I hope it works out for you. Best of luck,

Steve

 

[mlag2010]

Hi Steve,
I am sorry I didn't mention she was born in orlando fl, no genetic testing has been done as of this point. We are scheduled for another sweat test to be done on the 29th of June. I thank you for the information. I appreciate your time... I am glad to know that that is considered a positive for a newborn. I can honestly say you have been the most forthcoming with information so far. Thanks again please let me know if the information above changes anything in your advice, of how to move forward. MLAG

 

[SadiesMom]

Hi Steve!

I was reading through the many many pages of questions. You are so very kind to take your time to answer all of these questions. I was just wondering if you had any information on my daughter's mutations, DF508 & 1717G->A. From birth she's had mostly digestive issues and very little lung involvement (knock wood). Is this typical of this mutation combination? I guess we're just trying to figure out what to expect, which I know is impossible with CF.

Thanks in advance!

`Sherry

 

[NanaOf8GirlsAndCounting]

My granddaughter Graycie has CF DDF508, my younger son and his wife are pregnant and wanted my son tested to see if he was a carrier. Their insurance will not pay for this so they are waiting for the birth. What does the newborn blood test actually show if he/she is a carrier or if he/she has CF?

 

[mlag2010]

Hi Steve,
I had posted earlier and you recommended the seq. testing which is now being done blood sample was taken today... should have results in two weeks. Although I didn't know this when I originally posted to you they already found one mutation, in Fl they test for 35 of the most common and they did find deltaf508. They also did the carrier test for me today. Can you tell me anything about the level of severity of that mutation... just curious even if she is only a carrier, as we don't know yet. Thanks so much my clinic knew you by name by the way that must be a good sign (nemours in Orlando fl)!! Have a great day!! Thanks MLAG2010

 

[palinsyaya]

hi steve
1 question does the amount of sweat test show how severe the cf will be? My grandsons was 108.
thanks

 

[StevenKeiles]

Sherry,

The problem is that there is no way to know exactly what to expect. These mutations are both typical and can cause a wide range of symptoms. She is still very young and many patients will not develop some of the symptoms until later. Be prepared and hope for the best. Good luck,

Steve

Cheryl,

Newborn screening is different in every state, so it depends on the state and also on how much testing is done for that patient. There is a series of tests that occur but only if the first one is positive. The best thing to do is follow up with the doctor after the baby is born to make sure the results are ok.

Good luck,

Steve

 

[StevenKeiles]

MLAG,

DeltaF508 is the most common mutation and would be a severe mutation. I am glad you had a good experience at Nemours, I have spoken to many of the doctors there over the years.

Palinsyaya,

You cannot predict the level of disease based on the sweat results. A sweat of 108 means it is certain it is CF though.

Steve

 

[Auntysharn]

Hi Steve,

My nephew has been diagnosed with CF.
Just wondering if you can tell me anything about the gene mutation CFTR:c 1408>G(p.Met407Val)
This is my sister-in-law's gene, and they were also told (verbally) it was 17:18 . . does that make any sense to you?

My brother's gene is DF508.

I appreciate your time and thank you very much for all the knowledge you have shared here.

 

[mlag2010]

Hi Steve,

MLAG here wondering if you can supply me any further sage advice\guidance. my daughter is now more than two months old... her genetic seq anal. did not show a second gene mutation and my carrier testing returned nothing a gene mutation panel of 97 prob a standard...sent to genezyme. they still want another sweat test and I feel fairly conf. that the result will be over thirty again which means we will be sent to the cf clinic. I would like to know in your personal opinion, they said her sweat test is boarderline or inconclusive at over thirty... is it possible that I may carry a gene mutation outside that 97 gene mutation panel. I have lots of european heritage, suprisingly my husband is of mexican american decent... and he passed the deltaf508. Would it be beneficial since we have insurance that will do the genetic seq on me to go ahead and be sure that I don't carry something? I don't know what to make of all this it seems to just run itself around in circles... I was told they could declare her cf based on all the testing even with only one gene mutation? I am still concerned because we are dealing with very stinky poop actually smells like dog feces... I am a vet assistant I would know, and she spits up sometimes forty min after a bottle even when she has been burped and occasionally still coughs for apparently no reason whatSoever. I am really wanting to do the very best for my girl what would you recommend we do going forward thanks so much MLAG2010 ...
Ps husband is not dealing with this at all will hardly even talk about it or listen to anything I say about it... am struggling to be the advocate for my daughter when no one is supportive of my eff. to do so.

 

[ihni]

What a delight to see dicussion about such issues.

Does anyone have, know of anyone, with c.3528delC (or p.K1177SfsX15)mutation? Or, c1408A>G? (M470V)

My son has my delta508 mutation and my husband's 3528delC mutation plus a minor mutation as my husband is also homozygous for c.1408A>G (or p.M470V)! We are told M470V is associated with slighty reduced chloride channel activity. Apart from being almost 40 and able to eat like a horse my husband is fine. No sign of CF. FYI, my son's sweat test was definately positive at 126.

The problem is that we are attempting IVF. The genetic counsellors have advised we do not use any embryo with delta508 as they cannot predict what would happen with any bubba ending up with delta508 AND the M470V......(which he/she must as my husband is homozygous). This obviously significantly reduces the number of 'viable eggs'.

So do I consider delta508 and 3528delC of equal nastiness. Is one worse than the other. If they are about the same, then having M470 and delta508 might be okay as this is what my husband has???

I have exhausted all my direct experts on this. Any input would be very much appreciated.

 

[StevenKeiles]

Auntysharn,

The gene mutation CFTR:c 1408>G(p.Met407Val) is actually not a mutation but a common variant that is carried by almost half the population.


This is my sister-in-law's gene, and they were also told (verbally) it was 17:18 . . does that make any sense to you?

This does not make sense to me, I would need more information.

My brother's gene is DF508.
that is the most common CF mutation.

Steve


I apologize for the delays, I was traveling the last several weeks and was out of the country for 10 days with no email contact. There was something relaxing about that as I am sure many of you can imagine.

 

[StevenKeiles]

MLAG,
If her sequence test did not show another mutation, there is no point in testing you since she would have had to recieve the other mutation from you. Remember that no test is 100% so it is possible that we just can't find the other mutation and it really is a form of CF. It is also possible that it is not CF and it is something else. This is where the doctors need to figure it out based on the entire clinical presentation and not just any one test.

Sorry I could not be more help, but hopefully this will have more resolution over time.

best of luck,

Steve