R75Q variant - does it mean anything?

S

smccanl

New member
Hi,

I posted this question for Steve in the Ambry thread but thought I'd put it to all of you, too...

My allergist had me tested for CF because she couldn't figure out why my cough & sinusitis has been getting worse for a few years. After a borderline sweat (conductivity) test, she ordered a full genetic panel from Quest. My results are one G551D mutation and one R75Q variant.

Has anyone received a diagnosis of CF based on the combination of only one typical CF mutation and R75Q? The lab results say it may not be disease-causing, in which case I would only be a carrier, right?

I know my allergist will eventually sort this out with the CF doctor, but in the meantime I can't stop looking for answers.

Thanks in advance,
Sarah
 
S

smccanl

New member
Hi,

I posted this question for Steve in the Ambry thread but thought I'd put it to all of you, too...

My allergist had me tested for CF because she couldn't figure out why my cough & sinusitis has been getting worse for a few years. After a borderline sweat (conductivity) test, she ordered a full genetic panel from Quest. My results are one G551D mutation and one R75Q variant.

Has anyone received a diagnosis of CF based on the combination of only one typical CF mutation and R75Q? The lab results say it may not be disease-causing, in which case I would only be a carrier, right?

I know my allergist will eventually sort this out with the CF doctor, but in the meantime I can't stop looking for answers.

Thanks in advance,
Sarah
 
S

smccanl

New member
Hi,

I posted this question for Steve in the Ambry thread but thought I'd put it to all of you, too...

My allergist had me tested for CF because she couldn't figure out why my cough & sinusitis has been getting worse for a few years. After a borderline sweat (conductivity) test, she ordered a full genetic panel from Quest. My results are one G551D mutation and one R75Q variant.

Has anyone received a diagnosis of CF based on the combination of only one typical CF mutation and R75Q? The lab results say it may not be disease-causing, in which case I would only be a carrier, right?

I know my allergist will eventually sort this out with the CF doctor, but in the meantime I can't stop looking for answers.

Thanks in advance,
Sarah
 
S

smccanl

New member
Hi,

I posted this question for Steve in the Ambry thread but thought I'd put it to all of you, too...

My allergist had me tested for CF because she couldn't figure out why my cough & sinusitis has been getting worse for a few years. After a borderline sweat (conductivity) test, she ordered a full genetic panel from Quest. My results are one G551D mutation and one R75Q variant.

Has anyone received a diagnosis of CF based on the combination of only one typical CF mutation and R75Q? The lab results say it may not be disease-causing, in which case I would only be a carrier, right?

I know my allergist will eventually sort this out with the CF doctor, but in the meantime I can't stop looking for answers.

Thanks in advance,
Sarah
 
S

smccanl

New member
Hi,
<br />
<br />I posted this question for Steve in the Ambry thread but thought I'd put it to all of you, too...
<br />
<br />My allergist had me tested for CF because she couldn't figure out why my cough & sinusitis has been getting worse for a few years. After a borderline sweat (conductivity) test, she ordered a full genetic panel from Quest. My results are one G551D mutation and one R75Q variant.
<br />
<br />Has anyone received a diagnosis of CF based on the combination of only one typical CF mutation and R75Q? The lab results say it may not be disease-causing, in which case I would only be a carrier, right?
<br />
<br />I know my allergist will eventually sort this out with the CF doctor, but in the meantime I can't stop looking for answers.
<br />
<br />Thanks in advance,
<br />Sarah
 
L

Larasmom

New member
Hi Sarah, I am also a carrier of the r75q mutation, my husband was a carrier of the 621+T>g mutation. My daughter has ALWAYS had lung issues from the day she was born, but it wasn't until she was 5 and going into severe status asthma in an pedi ICU that they tested her for CF. Her sweat test also came back borderline,so she was genetically tested, she had 3 things that came up actually, the first 2 that I mentioned and another called MV007 or something like that, but the Dr. said she had CF and treated it as such,(but Steve from Ambry said the same thing that you just did) ( I joined this site years ago, but stopped looking for a long time because I couldn't take the sadness of it all) not that she was put on any special meds, but I did go to the clinic every 3 months and they did pft's, and x-rays, sputum cultures etc... Lara cultured Staph and her pft's were low, but with her meds it started coming back up..but the Dr. didnt like where her pfts were so he put her on Pulmozyme and the vest 2x's daily, she was doing great until last week , her culture came back positive for pseudomonas and she will start cipro and tobi for 28 days as soon as the medicine gets here (tomorrow) then her Dr. wants to give her the first neb at his office to see how she reacts.
I guess I hoped Lara would never culture PA, but at the same time I guess I knew it was inevitable.
It has been 4 years since I have visited this site(,I remember it was right when Little Debbie died, and I cried like a baby reading all the posts.)
I'm not a genetisist or a Dr. but I'd say that r75q is disease causing.
 
L

Larasmom

New member
Hi Sarah, I am also a carrier of the r75q mutation, my husband was a carrier of the 621+T>g mutation. My daughter has ALWAYS had lung issues from the day she was born, but it wasn't until she was 5 and going into severe status asthma in an pedi ICU that they tested her for CF. Her sweat test also came back borderline,so she was genetically tested, she had 3 things that came up actually, the first 2 that I mentioned and another called MV007 or something like that, but the Dr. said she had CF and treated it as such,(but Steve from Ambry said the same thing that you just did) ( I joined this site years ago, but stopped looking for a long time because I couldn't take the sadness of it all) not that she was put on any special meds, but I did go to the clinic every 3 months and they did pft's, and x-rays, sputum cultures etc... Lara cultured Staph and her pft's were low, but with her meds it started coming back up..but the Dr. didnt like where her pfts were so he put her on Pulmozyme and the vest 2x's daily, she was doing great until last week , her culture came back positive for pseudomonas and she will start cipro and tobi for 28 days as soon as the medicine gets here (tomorrow) then her Dr. wants to give her the first neb at his office to see how she reacts.
I guess I hoped Lara would never culture PA, but at the same time I guess I knew it was inevitable.
It has been 4 years since I have visited this site(,I remember it was right when Little Debbie died, and I cried like a baby reading all the posts.)
I'm not a genetisist or a Dr. but I'd say that r75q is disease causing.
 
L

Larasmom

New member
Hi Sarah, I am also a carrier of the r75q mutation, my husband was a carrier of the 621+T>g mutation. My daughter has ALWAYS had lung issues from the day she was born, but it wasn't until she was 5 and going into severe status asthma in an pedi ICU that they tested her for CF. Her sweat test also came back borderline,so she was genetically tested, she had 3 things that came up actually, the first 2 that I mentioned and another called MV007 or something like that, but the Dr. said she had CF and treated it as such,(but Steve from Ambry said the same thing that you just did) ( I joined this site years ago, but stopped looking for a long time because I couldn't take the sadness of it all) not that she was put on any special meds, but I did go to the clinic every 3 months and they did pft's, and x-rays, sputum cultures etc... Lara cultured Staph and her pft's were low, but with her meds it started coming back up..but the Dr. didnt like where her pfts were so he put her on Pulmozyme and the vest 2x's daily, she was doing great until last week , her culture came back positive for pseudomonas and she will start cipro and tobi for 28 days as soon as the medicine gets here (tomorrow) then her Dr. wants to give her the first neb at his office to see how she reacts.
<br /> I guess I hoped Lara would never culture PA, but at the same time I guess I knew it was inevitable.
<br /> It has been 4 years since I have visited this site(,I remember it was right when Little Debbie died, and I cried like a baby reading all the posts.)
<br />I'm not a genetisist or a Dr. but I'd say that r75q is disease causing.
<br />
 
You must log in or register to reply here.
Top