8013826887

NEWBORN SCREENING QUALITY ASSURANCE PROGRAM

CYSTIC FIBROSIS MUTATION DETECTION SURVEY OUARTER 4 - NOVEMBER 2017 LAB 1268

DATA YERIFICATION

Specimen Number	Allele 1	Allele 2	Clinical Assessment
417C1 —	No mutations detected —4	No mutations detected	1
417C2	No mutations detected	No mutations detected	1
417C3	F508del (c.1521_1523delCTT)	R553X (c.1657C>T)	2
417C4	F508del (c.1521 1523delCTT) |	3905insT (c.3773dupT)	2
417C5	F508del (c.1521_1523delCTT)	No mutations detected	2

NSOAP Reviewer's Comments

100% satisfactory based on the reported mutation panel and screening method.

Please notę that specimen 417C2 contains a CF-causing mutation that is not detected using your reported mutation panel and screening method.

Results have been reviewed by: Signature

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If you have any dliestions about your results, please contact Suzanne K. Cordovado by email at [e-mail] by telephone at 770-488-4048 or the Newborn Screening Ouality Assurance Program at [e-mail].