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Lety

Guest
Hi Steve, If my insurance doesn't want to pay for my delition/duplication test. Can I do it directly with Ambry or I need a doctor's referal?? How much does it cost?

Thanks
 

StevenKeiles

New member
Lety,
All testing must be ordered by a doctor, but you can always pay directly. the cost for the del dup test is $695. I hope that helps.

Steve
 

JENNYC

New member
Hi Steve!! We are going through the CF Foundation and their MAP program. I know that Abby's blood sample was sent to John Hopkins, but I didn't know if maybe that was still Ambry that actually did the testing or not. Just curious..
Thanks!!
 

auntiepam

New member
Hi Steve! I have been researching my niece's second mutation, R1066H, I have been finding conflicting information regarding what class it is in. Some info. is telling me it's a Class IV and other info. is saying it's a Class II. Any information would be greatly appreciated. I am new to the whole CF thing.
Thanks!
 

jricci

Super Moderator
Hi Steve, Could you please give me any information on the mutation combination of R334w and DF508? How common is it and what is the typical disease progression.

Thanks,
Jeannine
 

imagine04

New member
Hi Steve.

I posted shortly after we received the results of my sons genetic screen last January (2011) and have since actually gotten the report printed off and was wondering if there was any information related to his screening. Last time I had posted there wasn't any information on his second mutation that could be shared so i'm hoping that maybe there is something now.

Mutations Identified: p.I1023_V1024del (p.ILE1023_Val1024) & deltaF508
Intron 8 polyT alleles: 9T/9T

DNA change for p.p.I1023_V1024del:Exon 17a, c.3199del6 (c.3199_3204delATAGTG)

I am just curious as to how his "rare" mutation has presented in other patients tho i am well aware that the differences can vary greatly from patient to patient.

Also, being that his variants are 9T/9T and CBAVD is associated more closely to the 5T is this something that does still happen in those with the 9T's?

Also, i'm curious as to what class his rare mutation would be considered?

Thank you for any information you can share!
 

Julie7

New member
Hi Steve,
Was hoping you could help me with this interpretation from Quest, which said negative. Under the newly diagnosed group, I've described my son's symptoms including PI, below growth charts and sinus issues. In terms of the testings, should we ask for additional, I.e. Deletions? Quest results are below. Can the presence of the poly 5T be sufficient for CF alone? I realize it is probably not that black/white and that diagnosis includes the full picture of tests and clinical presentation.
RESULT: NEGATIVE

Interpretation: Sequencing of the entire coding region and
splice-sites of the CFTR gene revealed no previously
described CF mutations nor any novel sequence changes that
could result in deleterious missense, nonsense, small
insertion or deletion, or obvious splice-site mutations.
However, as indicated below, one or more previously
described polymorphic sequence changes were discovered in
the CFTR gene. This assay cannot rule out the possibility of
the heterozygous presence of a large deletion (e.g. spanning
a single exon or multiple exons), or detect intronic
mutations affecting mRNA splicing, leading to decreased CFTR
activity.

ADDITIONAL COMMENTS: The poly T status in intron 8 is 5T/7T
and the TG status is 11TG/12TG. This individual is
heterozygous for the 5T polymorphism in intron 9 (previously
intron 8) of the CFTR gene. This polymorphism is known to
lower the amount of functional CFTR protein, but is not
reported to cause classic CF. The 5T polymorphism may be
associated with milder forms of CF or an infertility problem
in males known as congenital absence of the vas deferens
(CBAVD), when present on the opposite chromosome with a
CF-causing mutation. Groman et al (2004 Am J Hum Genet
74:176-9) have reported that 5T adjacent to 12 or 13 TG
repeats is more likely to cause an abnormal phenotype than
5T adjacent to 11 TG repeats. In this individual the 5T is
adjacent to 12 TG repeats.

In addition, the tested individual is positive for two
copies of the following polymorphism in the CFTR gene:

1) p.Met470Val (formerly M470V): An A>G change at nucleotide
1408 in exon 11 (formerly exon 10) of the CF gene led to the
substitution of methionine by valine at position 470 of the
translated CF protein.
 

sweetninis

New member
Hi Steve I was wondering if could help me know the answer this questions

Is it possible for a single person to be a carrier of both thalassemia and cystic fibrosis at the same time.

Plz help me I have been asking this question but no bodys answer seems to satisfy.
 

gere

New member
Please help me!

I'm Olivia and my son was born with CF as well, now he's 4.
I'm writing from Europe, very pleased to read your blog
In Europe is not possible to buy Zenpep neighter any similar product which can contain that high level of amilase and protease.
We would like to try Zenpep enzyme because the Kreon is not that effective and has very low amilase- protease enzymes. Somebody has an idea how it could be obtained Zenpep 5000?
I have relatives in Florida, they would help with the payment and sending.
We're interested about any solution, for example if somebody is not satisfied with the product, We could buy it from them.
Maybe if you can order more and sell us the rest...

Hopefully I didn't bother you with my letter,wishing you the best,

Sincerely yours,

Olivia
olivia6500@gmail.com
 

Beccamom

New member
My genetic results were completed by Ambry while my daughter's testing was done by another company. If mom has v470 polymorphism on each gene does the child have to have a v470 polymorphism or could the child have a m470v polumorphism. I realize the polymorphisms themselves may not be clinically significant I am just trying to get our insurance company to pay for the Ambry testing for my daughter.

Thanks
Jen
 

StevenKeiles

New member
Jen,
V470 is the same as M470V. And yes if one parent has two V's then the child would have to have at least 1. In fact many people have two and about half the population has at least one. So this is a very common variant that has no clinical significance.

Steve
 

StevenKeiles

New member
Sweetninis,
Yes it is possible for someone to be a carrier of CF and Thalassemia since they are located on different chromosomes and have no interaction with each other. It is also possible for a person to be affected with two different genetic conditions as well.

Steve
 

StevenKeiles

New member
Julie,
Basically he is a carrier of the 5T, which is like being a carrier of a mild mutation. Not going to cause CF like disease by itself. If deletions were not performed it would be a reasonable option to check for that since that does account for a group of CF mutations. I would also think that the sweat test would provide a lot of information. If the sweat test is very normal, this is not likely to be CF and his issues are most likely caused by something else. If the sweat levels are borderline or close to borderline, I would do the deletion test for sure.

Steve
 

StevenKeiles

New member
Jeanne,
It looks like he has deltaF508 and 3199del6, This is a less common mutation but would be considered a typical classic CF causing mutation. Each child is different so you can never predict exact symptoms from the mutations.
I am not sure what class of mutation this is.

Steve
 

StevenKeiles

New member
Jeanine and Pam,
Both R334W and R1066H are classic CF causing mutations that can result in typical severe CF when combined with another severe mutation. I am not sure of the class of mutation but the Class of mutation is not significant.
All mutations can vary and the disease is not the same in any two people, even siblings. So each person has to be evaluated on their own. The mutations just give an idea of the range of symptoms but not where one will fall within that range.
I hope that helps., best of luck to both of you.
Steve
 
S

SarahProcter

Guest
Steve,

When my daughter turned up with the mutation S1159P back in 2008, hers was the only time Ambry had seen it. Has there been any other sighting of it in your tests in the last 4 years? I don't ask for you to tell me anything at all about who or what the results were, but it would be very interesting to know simply if there was anyone else at all found with that mutation, or if Ambry has still only ever seen it once.

Thanks much.
 

mom2my3kids

New member
My daughter's full gene squencing came back...but its confusing...

A little history is that we had a son (Xander) pass away at 14 months due to CF complications (he had DF508 and a 5t 12tg variant) we assumed since my daughter has shown CF ish symptoms hers would be the same (same parents) but they aren't...

Here is what hers says :

Two alterations:
(1) Positive, predicted to be deleterious: A heterozygous deletion of CTT at nucleotides 1653 to 1655 resulting
in an in-frame deletion of phenylalanine at codon 508 in the CFTR gene (c.1653_1655 delCTT; p.Phe508del).
(2) Variant of uncertain significance: A heterozygous change from G to A at nucleotide 356 resulting in a
change from arginine to glutamine at codon 75 in the CFTR gene (c.356 G>A; p.Arg75Gln).
This individual was found to have 7/9 poly T's and 10/11 poly TG's in intron 8 (non-pathogenic)

Two changes from the “normal” or wild type sequence of the CFTR gene were detected in this sample.

Any ideas as to what this means? I knew if hers read like baby Xander's then sorta I knew what to expect but no idea here...and we dont see her CF doc for 3 more weeks so any insight would be most helpful...thank you

Jana
 

StevenKeiles

New member
child's results

My daughter's full gene squencing came back...but its confusing...

A little history is that we had a son (Xander) pass away at 14 months due to CF complications (he had DF508 and a 5t 12tg variant) we assumed since my daughter has shown CF ish symptoms hers would be the same (same parents) but they aren't...

Here is what hers says :

Two alterations:
(1) Positive, predicted to be deleterious: A heterozygous deletion of CTT at nucleotides 1653 to 1655 resulting
in an in-frame deletion of phenylalanine at codon 508 in the CFTR gene (c.1653_1655 delCTT; p.Phe508del).
(2) Variant of uncertain significance: A heterozygous change from G to A at nucleotide 356 resulting in a
change from arginine to glutamine at codon 75 in the CFTR gene (c.356 G>A; p.Arg75Gln).
This individual was found to have 7/9 poly T's and 10/11 poly TG's in intron 8 (non-pathogenic)

Two changes from the “normal” or wild type sequence of the CFTR gene were detected in this sample.

Any ideas as to what this means? I knew if hers read like baby Xander's then sorta I knew what to expect but no idea here...and we dont see her CF doc for 3 more weeks so any insight would be most helpful...thank you

Jana
It looks like all they found was deltaF508, no 5T, so she is just a carrier. The other variant is R75Q which is not a disease causing mutation, I hope that helps.

steve
 
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