NEWBORN SCREENING OUALITY ASSURANCE PROGRAM CYSTIC FIBROSIS MUTATION DETECTION SURVEY OUARTER 3 - AUGUST 2018 LAB 1268
DATA N/ERIFICATION
Specimon Numbor |
Allolo 1 |
Allolo 2 |
Clinłcal Assossmont |
318C1 |
No mutations detected |
No mutations detected |
1 |
318C2 |
F508del (c.1521_1523delCTT) |
No mutations detected |
2 |
318C3 |
No mutations detected |
No mutations detected |
1 |
318C4 |
F508del (c.1521 J523delCTT) |
No mutations detected |
2 |
318C5 |
No mutations detected |
No mutations detected |
1 |
NSQAP Reyiewoi^s Commonts
100% satisfactory based on the reported variant panel and screening algorithm.
Notę that specimens 318C1.318C2 and 318C3 contain CF-causing varlants that are not detected using your reported variant panel and screening algonthm.
Results have been reviewed Kamila Czered i ws^łnicy sp.
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