Accuracy of test

[Alyssa]

Continue to ask for full genetic testing, that is currently over 1500 mutations.

Dr.'s sometimes try to save the insurance company $$$ by ordering the cheaper tests, but if you have reason to believe he might have CF (and you do) then keep asking until someone orders it. Change doctors if you have to. Are you getting treated at a certified CF clinic? It would really be helpful if you were at a CF clinic.

As for your other question about Creon working and would that point to a CF diagnosis a little more.... I couldn't say for sure, yes maybe.... do you know if they did a fecal fat test? If the results of that could also lean towards a positive diagnosis. I don't know for certain, but I think there might be people out there who benefit from enzymes but do not have CF. I think it best to keep up the testing until you know for sure. In the meantime it is good news that the enzymes help his digestive issues.

 

[Alyssa]

Continue to ask for full genetic testing, that is currently over 1500 mutations.

Dr.'s sometimes try to save the insurance company $$$ by ordering the cheaper tests, but if you have reason to believe he might have CF (and you do) then keep asking until someone orders it. Change doctors if you have to. Are you getting treated at a certified CF clinic? It would really be helpful if you were at a CF clinic.

As for your other question about Creon working and would that point to a CF diagnosis a little more.... I couldn't say for sure, yes maybe.... do you know if they did a fecal fat test? If the results of that could also lean towards a positive diagnosis. I don't know for certain, but I think there might be people out there who benefit from enzymes but do not have CF. I think it best to keep up the testing until you know for sure. In the meantime it is good news that the enzymes help his digestive issues.

 

[okok]

I just checked the ambry website. The order of testing goes 1) df508 first
2) If this is negative or inconclusive then the full testing option means full sequencing of the CFTR NOT a panel for a set number of mutations. The full sequencing option detects 97-98% of mutations. The ambry amplified option includes both sequencing and deletion/duplication testing. Ambry amplified testing detects 99% of mutations with the deletion/duplication testing increasing the sensitivity of sequencing by about 1%.

 

[okok]

I just checked the ambry website. The order of testing goes 1) df508 first
2) If this is negative or inconclusive then the full testing option means full sequencing of the CFTR NOT a panel for a set number of mutations. The full sequencing option detects 97-98% of mutations. The ambry amplified option includes both sequencing and deletion/duplication testing. Ambry amplified testing detects 99% of mutations with the deletion/duplication testing increasing the sensitivity of sequencing by about 1%.

 

[okok]

I just checked the ambry website. The order of testing goes 1) df508 first
2) If this is negative or inconclusive then the full testing option means full sequencing of the CFTR NOT a panel for a set number of mutations. The full sequencing option detects 97-98% of mutations. The ambry amplified option includes both sequencing and deletion/duplication testing. Ambry amplified testing detects 99% of mutations with the deletion/duplication testing increasing the sensitivity of sequencing by about 1%.

 

[okok]

I just checked the ambry website. The order of testing goes 1) df508 first
2) If this is negative or inconclusive then the full testing option means full sequencing of the CFTR NOT a panel for a set number of mutations. The full sequencing option detects 97-98% of mutations. The ambry amplified option includes both sequencing and deletion/duplication testing. Ambry amplified testing detects 99% of mutations with the deletion/duplication testing increasing the sensitivity of sequencing by about 1%.

 

[okok]

I just checked the ambry website. The order of testing goes 1) df508 first
2) If this is negative or inconclusive then the full testing option means full sequencing of the CFTR NOT a panel for a set number of mutations. The full sequencing option detects 97-98% of mutations. The ambry amplified option includes both sequencing and deletion/duplication testing. Ambry amplified testing detects 99% of mutations with the deletion/duplication testing increasing the sensitivity of sequencing by about 1%.

 

[okok]

I just checked the ambry website. The order of testing goes 1) df508 first
2) If this is negative or inconclusive then the full testing option means full sequencing of the CFTR NOT a panel for a set number of mutations. The full sequencing option detects 97-98% of mutations. The ambry amplified option includes both sequencing and deletion/duplication testing. Ambry amplified testing detects 99% of mutations with the deletion/duplication testing increasing the sensitivity of sequencing by about 1%.

 

[okok]

Hey

Ktsmom, if you are curious about your daughter's (no CF) carrier status, you should ask steve about buccal swabs (ie cheek swab, saliva) for delf508 analysis. Labdad (my husband) mentioned this once before. I just saw on the ambry website that they take saliva samples so this might be an option for your daughter since she refuses blood draws. Also testing for a single mutation from ambry is actaully pretty cheap.

Sorry to interrupt your thread Jenybeen... just wanted to add that since i just saw it on ambry's webpage.

 

[okok]

Hey

Ktsmom, if you are curious about your daughter's (no CF) carrier status, you should ask steve about buccal swabs (ie cheek swab, saliva) for delf508 analysis. Labdad (my husband) mentioned this once before. I just saw on the ambry website that they take saliva samples so this might be an option for your daughter since she refuses blood draws. Also testing for a single mutation from ambry is actaully pretty cheap.

Sorry to interrupt your thread Jenybeen... just wanted to add that since i just saw it on ambry's webpage.

 

[okok]

Hey

Ktsmom, if you are curious about your daughter's (no CF) carrier status, you should ask steve about buccal swabs (ie cheek swab, saliva) for delf508 analysis. Labdad (my husband) mentioned this once before. I just saw on the ambry website that they take saliva samples so this might be an option for your daughter since she refuses blood draws. Also testing for a single mutation from ambry is actaully pretty cheap.

Sorry to interrupt your thread Jenybeen... just wanted to add that since i just saw it on ambry's webpage.

 

[okok]

Hey

Ktsmom, if you are curious about your daughter's (no CF) carrier status, you should ask steve about buccal swabs (ie cheek swab, saliva) for delf508 analysis. Labdad (my husband) mentioned this once before. I just saw on the ambry website that they take saliva samples so this might be an option for your daughter since she refuses blood draws. Also testing for a single mutation from ambry is actaully pretty cheap.

Sorry to interrupt your thread Jenybeen... just wanted to add that since i just saw it on ambry's webpage.

 

[okok]

Hey

Ktsmom, if you are curious about your daughter's (no CF) carrier status, you should ask steve about buccal swabs (ie cheek swab, saliva) for delf508 analysis. Labdad (my husband) mentioned this once before. I just saw on the ambry website that they take saliva samples so this might be an option for your daughter since she refuses blood draws. Also testing for a single mutation from ambry is actaully pretty cheap.

Sorry to interrupt your thread Jenybeen... just wanted to add that since i just saw it on ambry's webpage.

 

[okok]

Hey

Ktsmom, if you are curious about your daughter's (no CF) carrier status, you should ask steve about buccal swabs (ie cheek swab, saliva) for delf508 analysis. Labdad (my husband) mentioned this once before. I just saw on the ambry website that they take saliva samples so this might be an option for your daughter since she refuses blood draws. Also testing for a single mutation from ambry is actaully pretty cheap.

Sorry to interrupt your thread Jenybeen... just wanted to add that since i just saw it on ambry's webpage.

 

[ktsmom]

thanks for that, okok. I remember when your dad posted that and I filed in the back of my mind - check and see if Ambry will take a swab instead of blood.

So thanks for doing my homework for me! As time has passed, the urgency to "know" has passed <i>a little</i> as well. Frankly, I'm not sure I could handle a carrier diagnosis right now. I've got enough on my mental plate! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[ktsmom]

thanks for that, okok. I remember when your dad posted that and I filed in the back of my mind - check and see if Ambry will take a swab instead of blood.

So thanks for doing my homework for me! As time has passed, the urgency to "know" has passed <i>a little</i> as well. Frankly, I'm not sure I could handle a carrier diagnosis right now. I've got enough on my mental plate! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[ktsmom]

thanks for that, okok. I remember when your dad posted that and I filed in the back of my mind - check and see if Ambry will take a swab instead of blood.

So thanks for doing my homework for me! As time has passed, the urgency to "know" has passed <i>a little</i> as well. Frankly, I'm not sure I could handle a carrier diagnosis right now. I've got enough on my mental plate! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[ktsmom]

thanks for that, okok. I remember when your dad posted that and I filed in the back of my mind - check and see if Ambry will take a swab instead of blood.

So thanks for doing my homework for me! As time has passed, the urgency to "know" has passed <i>a little</i> as well. Frankly, I'm not sure I could handle a carrier diagnosis right now. I've got enough on my mental plate! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[ktsmom]

thanks for that, okok. I remember when your dad posted that and I filed in the back of my mind - check and see if Ambry will take a swab instead of blood.

So thanks for doing my homework for me! As time has passed, the urgency to "know" has passed <i>a little</i> as well. Frankly, I'm not sure I could handle a carrier diagnosis right now. I've got enough on my mental plate! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[ktsmom]

thanks for that, okok. I remember when your dad posted that and I filed in the back of my mind - check and see if Ambry will take a swab instead of blood.

So thanks for doing my homework for me! As time has passed, the urgency to "know" has passed <i>a little</i> as well. Frankly, I'm not sure I could handle a carrier diagnosis right now. I've got enough on my mental plate! <img src="i/expressions/face-icon-small-smile.gif" border="0">