NEWBORN SCREENING OUALITY ASSURANCE PROGRAM CYSTIC FIBROSIS MUTATION DETECTION SURVEY OUARTER 3 - AUGUST 2017 LAB 1268
DATA VERIFICATION
Specimen Number |
Allele 1 |
Allele 2 |
Clinical Assessment |
317C1 |
F508del (c.1521_1523delCTT) |
F508del (c.1521 _1523delCTT) |
2 |
317C2 |
F508del (c.1521_1523delCTT) |
G551D (c.1652G>A) |
2 |
317C3 |
A559T (c.1675G>A) |
No mutations detected |
2 |
317C4 |
2055del9>A (c.1923_1931del9insA) |
No mutations detected |
2 |
317C5 |
No mutations detected |
No mutations detected |
1 |
M |
NSOAP Reviewer's Comments
100% satisfactory based on the reported mutation panel and screening method.
/O
Signature
Title
Agnieszka Sobczyńska * Tomaszawsks DIAGNOSTA LABORATORYJNY specjalista w dziedzinie laboratoryjne:
Datę
If you have any questions about your results, please contact Suzanne K. Cordovado by email at SCordovado@cdc.gov by telephone at 770-488-4048 or the Newborn Screening Quality Assurance Program at NSQAPDMT@cdc.gov.