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  1. F

    Welcome Ambry Genetics

    Hey Steve, my seemingly healthy 5 month old son was tested by Quest and I was wondering if you had any thoughts on his results. He tested positive for DF508 and Q1012P. "The Q1012P novel variant is caused by an A>C change at nucleotide 3167 in exon 17a of the CFTR gene." Also, what is the...
  2. F

    diagnosed without symptoms

    thanks everyone for your replies. Does Quest do their testing at Ambry? I was under the impression the blood work that myself and my son got was going to Ambry but we got our blood drawn at Quest and the reports say Quest. The report on the Q1012P said that it could be benign. According to...
  3. F

    diagnosed without symptoms

    thanks everyone for your replies. Does Quest do their testing at Ambry? I was under the impression the blood work that myself and my son got was going to Ambry but we got our blood drawn at Quest and the reports say Quest. The report on the Q1012P said that it could be benign. According to...
  4. F

    diagnosed without symptoms

    thanks everyone for your replies. Does Quest do their testing at Ambry? I was under the impression the blood work that myself and my son got was going to Ambry but we got our blood drawn at Quest and the reports say Quest. The report on the Q1012P said that it could be benign. According to...
  5. F

    diagnosed without symptoms

    thanks everyone for your replies. Does Quest do their testing at Ambry? I was under the impression the blood work that myself and my son got was going to Ambry but we got our blood drawn at Quest and the reports say Quest. The report on the Q1012P said that it could be benign. According to...
  6. F

    diagnosed without symptoms

    thanks everyone for your replies. Does Quest do their testing at Ambry? I was under the impression the blood work that myself and my son got was going to Ambry but we got our blood drawn at Quest and the reports say Quest. The report on the Q1012P said that it could be benign. According to...
  7. F

    diagnosed without symptoms

    My son was born in March and his newborn screening was "elevated" for CF. Thru subsequent testing we have learned that he received delta 508 from his mother and Q1012P from me. His sweat test was a 41. Q1012P is a "novel variant" and no one knows what the heck is the deal with it. We have...
  8. F

    diagnosed without symptoms

    My son was born in March and his newborn screening was "elevated" for CF. Thru subsequent testing we have learned that he received delta 508 from his mother and Q1012P from me. His sweat test was a 41. Q1012P is a "novel variant" and no one knows what the heck is the deal with it. We have...
  9. F

    diagnosed without symptoms

    My son was born in March and his newborn screening was "elevated" for CF. Thru subsequent testing we have learned that he received delta 508 from his mother and Q1012P from me. His sweat test was a 41. Q1012P is a "novel variant" and no one knows what the heck is the deal with it. We have...
  10. F

    diagnosed without symptoms

    My son was born in March and his newborn screening was "elevated" for CF. Thru subsequent testing we have learned that he received delta 508 from his mother and Q1012P from me. His sweat test was a 41. Q1012P is a "novel variant" and no one knows what the heck is the deal with it. We have...
  11. F

    diagnosed without symptoms

    My son was born in March and his newborn screening was "elevated" for CF. Thru subsequent testing we have learned that he received delta 508 from his mother and Q1012P from me. His sweat test was a 41. Q1012P is a "novel variant" and no one knows what the heck is the deal with it. <br /> <br...
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