8013826891
NEWBORN SCREENING OUALITY ASSURANCE PROGRAM
CYSTIC FIBROSIS VAR1ANT DETECTION SURVEY OUARTER 4 - NOVEMBER 2019 LAB 1268
DATA YERlFICATiON
|
Specimen Number |
Allele 1 |
Allele 2 |
Clinical Assessment ' |
|
419C1 |
F508del (c.1521_1523delCTT) |
No variants detected |
2 |
|
419C2 |
F508del (c.1521 _1523delCTT) |
3905insT (c.3773dupT) |
2 |
|
419C3 |
F508del (c.1521_1523delCTT) |
No variants detected |
2 |
|
419C4 |
No variants detected |
No variants detected |
1 |
|
419C5 |
F311del (c.933_935delCTT) |
No variants detected |
2 |
* Clinical Assessment Key:
1 (Screen Negative- Normal)
2 (Screen Positive-1 or 2 variants)
NSOAP Reviewer's Comments
No misclassifications reported.
Notę that specimen 419C3 contains a CF-causing variantthat is not detected using your reported screening method.
Results have been reyiewed by:
Signature
drn. mm. Kamila Cz&rska
DIAGNOSTA LABORATORYJNY ^ y/ ^
ep^jaiiRte w dziedzinie laftoratoiyinei s/' /' '
5 genetyki medycznej Datę
if you have any questions about your results, please contact the Newborn Screening Ouality Assurance Program at NSQAPDMT@cdc.gov.
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