8013826890
NEWBORN SCREENING OUALITY ASSURANCE PROGRAM
CYSTIC FIBROSIS MUTATION DETECTION SURVEY OUARTER 2 - MAY 2018 LAB 1268
DATA N/ERIFICATION
|
Specimen Number |
Allele 1 |
Allele 2 |
Clinical Assessment |
|
218C1 |
R334W(c.1000C>T) |
F508del (c.1521_1523delCTT) |
2 |
|
218C2 |
Y1092X (c.3276C>A or c.3276C>G) |
No variants detected |
2 |
|
218C3 |
No variants detected |
No variants detected |
1 |
|
218C4 |
No variants detected |
No variants detected |
1 |
|
218C5 |
F508del (c. 1521_1523delCTT) |
F508del (c.1521_1523delCTT) |
2 |
NSOAP Reviewer's Comments
100% satisfactory based on the reported screening method.
Notę that specimen 218C4 contains CF-causing variants that are not detected using your reported screening method.
Its have been reviewed by:
*
—
Title
oout your results, please contact Suzanne K. Cordovado by email at
or the Newborn Screening Quality Assurance
Program at NSQAPDMT@cdc.gov.
if you have any questions SCordovado@cdc.gov by/elephone at 770-488-4048
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