IMPORTANT ADVISORY FOR CF CARE CENTER DIRECTORS

STATE OF MICHIGAN
DEPARTMENT OF HEALTH AND HUMAN SERVICES
LANSING
RICK SNYDER
GOVERNOR
NICK LYON
DIRECTOR
IMPORTANT ADVISORY FOR CF CARE CENTER DIRECTORS
Regarding Cystic Fibrosis Newborn Screening Results, reported July 2015 - March 27, 2016
Our records indicate one or more of your newborn patients (see attached list) between July 2015 – March 27,
2016 was screened for cystic fibrosis (CF) using a Hologic molecular test kit that has now been recalled. The
recall was initiated in response to nine complaints of false positive results involving a specific mutation, S549R.
It is believed the mutation was erroneously reported in heterozygous form due to a lamination defect in its
testing well. Two technical performance complaints (leaking) were also received. It is unlikely that any
Michigan patients were affected by this faulty kit since we have no documented cases involving the S549R
mutation during the recall period. Out of an abundance of caution, we are identifying all specimens screened
using Hologic kits identified in the recall. Action needed for infants originally reported as screen positive are
outlined below. Primary care physicians (PCPs) are also being alerted about their patients originally reported
with a positive CF screen using the recalled kit. At this time there is no evidence to suggest a higher risk of a
false negative screen. We will contact you if any additional information about this recall becomes available
that would alter our response.
MDHHS Laboratory
Result
High IRT/1 Mutation
High IRT/2 Mutations
ACTION NEEDED FOR INFANTS SCREENED:
July 2015- March 27, 2016
• Confirm patient had sweat test at CF Care
Center.
- For those with positive sweat test, stored
specimen will be retested* if genotype not
already confirmed.
- For those with negative sweat test, PCP
directed by MDHHS to inform parents that
stored specimen will be retested* to
confirm presence of 1 mutation, may take
3-6 months. New laboratory report issued
when testing complete.
• Confirm patient had sweat test at CF Care
Center.
- Stored specimen will be retested* if
genotype not already confirmed.
Beginning March 28, 2016
• PCPs instructed to follow Michigan’s
standard action steps (refer to Quick
Facts sheet) used to refer patient to
one of Michigan’s CF Foundation
accredited Care Centers.
- Final NBS report will reflect
positive CF screening result.**
• PCPs instructed to follow Michigan’s
standard action steps (refer to Quick
Facts sheet) used to refer patient to
one of Michigan’s CF Foundation
accredited Care Centers.
- Final NBS report will reflect
positive CF screening result.**
*Retesting is done using a DNA mutation panel of 60 CFTR mutations versus the original panel of 40 mutations. This may
result in the identification of additional CF mutations solely because of the extra DNA mutations screened. This scenario
is unlikely for your patients since all have had confirmatory sweat testing.
**Results will reflect screening using a 60 CFTR mutation panel. For more details on the 60 mutation panel, please visit
www.michigan.gov/newbornscreening.
201 TOW NSEND STREET • LA NSING, MIC H IGA N 48913
www.michigan.gov/mdhhs • 517-373-3740