8013826886

8013826886



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


Osi ar n. mad. Kamile Czarska    jjj//(

====================

Results haye been reviewed bjr:


Signature


Title


dr n. mad.

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.




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