Purpose Statement: The purpose of newborn screening is to detect potentially fatal or disabling conditions in newborns as early as possible before the infant displays any signs or symptoms of a disease or condition.
Mission Statement: The Newborn Screening Program seeks to decrease the morbidity and mortality of infants born in South Dakota through timely testing, diagnosis, and high-quality newborn screening follow-up.
Condition Nomination Form for Additional to Newborn Screening Panel Conflict of Interest Disclosure Form
Newborn Screening Advisory Meeting
Sept 11, 2024, 11 am - 1 pm (Central), Virtual
Interested parties may register for the meeting by contacting dohnewbornscreening@state.sd.us.
People interested in presenting data, opinions, or written comments may do so by contacting the Newborn Screening Program at DOHNewbornScreening@state.sd.us.
Please contact the SD Newborn Screening Program at least 48 hours before the virtual meeting if you have special needs for which arrangements can be made by calling 605-773-3737.
IMPLEMENTATION OF TESTING FOR A NEW DISORDER FOR NEWBORN SCREENING
SCREENING FOR POMPE
Effective September 1, 2022
Pompe (Glycogen Storage Disease Type II)
ADDED TO SOUTH DAKOTA NEWBORN SCREENING PANEL
In consultation with the South Dakota Newborn Screening Advisory Committee, the South Dakota Department of Health has added Pompe (Glycogen Storage Disease Type II) to South Dakota's newborn screening panel.
Early treatment of babies with infantile-onset Pompe is needed to avoid progressive, fatal cardiomyopathy. Without treatment, the infantile form of Pompe disease typically leads to death within the first two years of life.
What is Pompe Disease?
Pompe Disease is an inherited autosomal recessive condition that results in progressive myopathy of both skeletal and cardiac muscle. In the infantile-onset form, severe symptoms may be present within two weeks of life and most children are symptomatic by one year of age. Late-onset Pompe includes infants less than twelve months old without cardiomyopathy or children with symptoms starting after they are one year old.
Newborn screening for Pompe involves the measurement of acid-a-glucosidase (GAA) enzyme activity using Flow Injection Analyses-Tandem Mass Spectrometry (FIA-MS/MS). A screen-positive result for Pompe is detected by a low or absent activity of the GAA enzyme, the biomarker for Pompe disease.
As a reminder, this is a screening test. A false negative or a false positive result must always be considered when screening. Therefore, clinical findings and status should be considered when interpreting laboratory results.
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The newborn screening fee will increase from the current rate of $91.00 to $98.00 on September 1, 2022.
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There will be no charge for repeat specimens when requested by the South Dakota Department of Health or the State Hygienic Laboratory.
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The CPT procedure and service code used for the Newborn Screening panel, including Pompe disease screening, is S3620. This is a universal code and is the only code to use per APP and HIPPA.
HCPCS Level II codes are part of the standard procedure code set under the Health Insurance Portability and Accountability Act of 1996.
The newborn metabolic screening panel, includes the test kit, postage, and the laboratory tests specified by the state for inclusion in this panel (eg, galactose; hemoglobin, electrophoresis; hydroxyprogesterone, 17-D; phenylalanine [phenylketonuria (PKU)]; and thyroxine, total)
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NOTE: The appropriate blood collection code (36416). DO NOT bill for each test separately
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Specimen collection will not change from current procedures - nothing different needs to be done for the collection of the newborn blood spot specimen.
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Additional Pompe disease information is available upon request. If interested, please contact the South Dakota Department of Health Newborn Screening Program at 605-983-1389. Pompe disease information is also available from the US National Library of Medicine and Baby’s First Test.
Questions regarding Pompe disease screening may be directed to the following individuals:
Questions for the South Dakota Newborn Screening Program:
Bernadette Boes, RN
Newborn Screening Program Coordinator
South Dakota Department of Health
605-983-1389
Bernadette.boes@state.sd.us
SHL Newborn Screening Laboratory Questions:
Kenneth Coursey
Clinical Lab Supervisor, SHL Newborn Screening Laboratory
515-725-1630
kenneth-coursey@uiowa.edu
SHL Newborn Screen Billing Questions:
John Negley
State Hygienic Laboratory
2490 Crosspark Road
Coralville, IA 52241
319-335-4500/Fax 319-335-4171
shl-receivable@uiowa.edu
Screening Follow-up and Treatment Questions:
Sharina Tveit, RN
South Dakota Newborn Screening Program
Follow-up Coordinator
605-312-0976
Sharina.tveit@sanfordhealth.org
The South Dakota Department of Health and the State Hygienic Laboratory intend to work closely with you to implement screening for Pompe disease with the goal of saving lives and improving outcomes for affected infants. Please feel free to contact us with any questions regarding Pompe disease screening.
Sincerely,
Beth Dokken
Division Director, Division of Family & Community Health
South Dakota Department of Health
605-773-3737
Beth.dokken@state.sd.us
Ken Coursey
Clinical Lab Supervisor, NBS Laboratory
Iowa State Hygienic Laboratory
515-725-1628
kenneth-coursey@uiowa.edu