8013826889
NEWBORN SCREENING OUALITY ASSURANCE PROGRAM CYSTIC FIBROSIS MUTATION DETECTION SURVEY OUARTER 2 - MAY 2016
LAB 1268
DATA VERIFICATION
|
Specimen Number |
Allele 1 |
Allele 2 |
Clinical Assessment |
|
216C1 |
No mutations detected |
No mutations detected |
1 |
|
216C2 |
F508del (c. 1521_1523delCTT) |
F508del (c. 1521_1523delCTT) |
2 |
|
216C3 |
2105-2117del13insAGAAA (c.1973 1985del13ins AGAAA1 |
No mutations detected |
2 |
|
216C4 |
3905insT (c.3773_3774insT) |
No mutations detected |
2 |
|
216C5 |
F508del (c. 1521_1523delCTT) |
No mutations detected |
2 |
NSQAP Reviewer's Comments
100% satisfactory based on the reported screening method.
Please notę that specimen 216C5 contains a CF causing mutation that is not detected using your reported screening method.
Results have been reviewed by:
ujicdŁnie laboratoryjnej
Signature
If you have any questions about your results/please contact Suzanne K. Cordovado by email at SCordovado@cdc.gov by telephone at 779^88-4048 or the Newborn Screening Ouality Assurance Program at 770-488-4582.
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