8013826877

NEWBORN SCREENING OUALITY ASSURANCE PROGRAM CYSTIC FIBROSIS VARIANT DETECTION SURVEY

GUARTER 4 - NOYEMBER 2018

LAB 1268

DATA YERIFICATION

i Specimen ] Nuntber	Alicie 1 ¹, .j-7 '^J .1	. jjble 2.¹	Clinical Assessment
418C1	F508del (c.1521_1523delCTT)	F508del (c.1521J523deiCTT)	j 2
416C2 ł	No variants deteeted	No variants deteeted	■1!
1 418C3	F508del (c.l521_1523delCTT)	No variants deteeted	2
418C4	3849+1Okb C>T (c.3717+12191C>T)	G542X (c.1624G>T)	2 i'
418C5	2183AA>G (c.2051_2052delAAinsG)	No variants deteeted	2

NSOAP ReYiewer^s Comments

100% satisfactory based on the reported variant panel.

Please notę that specimen 418C3 contains a CF-causing variantthat is not deteeted using your reported variant panel

Resuits have been

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if you have any questions about your resuits, please contact Suzanne K. Cordovado by email at SCordovado@cdc.0ov by telephone at 770-488^4048 or the Newbom Screening Quality Assurai Program at NSQAPDMT@cdc.gov,

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