Search results

  1. F

    Definitive Diagnosis and ?'s

    My 16 year old son was definitely confirmed CF via Ambry DNA. He has R1066C and P750L, both hispanic mutations the R1066C being the one that can cause classic CF symptoms, the other one is a novel mutation not alot of information on it. His Ct lungs and CT sinus scans were excellent no damage...
  2. F

    Definitive Diagnosis and ?'s

    My 16 year old son was definitely confirmed CF via Ambry DNA. He has R1066C and P750L, both hispanic mutations the R1066C being the one that can cause classic CF symptoms, the other one is a novel mutation not alot of information on it. His Ct lungs and CT sinus scans were excellent no damage...
  3. F

    Definitive Diagnosis and ?'s

    My 16 year old son was definitely confirmed CF via Ambry DNA. He has R1066C and P750L, both hispanic mutations the R1066C being the one that can cause classic CF symptoms, the other one is a novel mutation not alot of information on it. His Ct lungs and CT sinus scans were excellent no damage...
  4. F

    Definitive Diagnosis and ?'s

    My 16 year old son was definitely confirmed CF via Ambry DNA. He has R1066C and P750L, both hispanic mutations the R1066C being the one that can cause classic CF symptoms, the other one is a novel mutation not alot of information on it. His Ct lungs and CT sinus scans were excellent no damage...
  5. F

    Definitive Diagnosis and ?'s

    My 16 year old son was definitely confirmed CF via Ambry DNA. He has R1066C and P750L, both hispanic mutations the R1066C being the one that can cause classic CF symptoms, the other one is a novel mutation not alot of information on it. His Ct lungs and CT sinus scans were excellent no damage...
  6. F

    Definitive Diagnosis and ?'s

    My 16 year old son was definitely confirmed CF via Ambry DNA. He has R1066C and P750L, both hispanic mutations the R1066C being the one that can cause classic CF symptoms, the other one is a novel mutation not alot of information on it. His Ct lungs and CT sinus scans were excellent no damage...
  7. F

    Welcome Ambry Genetics

    CONGRATULATIONS Steve on the birth of your baby girl......., how exciting. Thank you for the information, I appreciate your help very much. Do you know if there is anyone with my son's exact mutations? R1066C and P750L? I know there is really no way to predict how he will do long term, but...
  8. F

    Welcome Ambry Genetics

    Steve, my name is Sharon and my 16 yr old son's results just came back P750L R1066C Can you tell me a little about these are they rare, more serious, what may we be looking at long term. I believe he's Atypical based on little symptoms none the less he has CF. Just searching for any and all...
  9. F

    My son 16 and 2nd positive Sweat Chloride

    Hi I'm new here and looking for some advice. My son has just had his second elevated sweat chloride test done. First one done at non CF center, second one done at UC Davis, accredited CF center. His symptoms are nasal, nose polyp (1), allergies, slight loss of taste / smell and slight...
  10. F

    My son 16 and 2nd positive Sweat Chloride

    Hi I'm new here and looking for some advice. My son has just had his second elevated sweat chloride test done. First one done at non CF center, second one done at UC Davis, accredited CF center. His symptoms are nasal, nose polyp (1), allergies, slight loss of taste / smell and slight...
  11. F

    My son 16 and 2nd positive Sweat Chloride

    Hi I'm new here and looking for some advice. My son has just had his second elevated sweat chloride test done. First one done at non CF center, second one done at UC Davis, accredited CF center. His symptoms are nasal, nose polyp (1), allergies, slight loss of taste / smell and slight...
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