Lysosomal Storage Disorders (LSDs)
The Missouri State Public Health Laboratory screens for the following Lysosomal Storage Disorders:
Missouri newborn screening samples must only be collected on the Food and Drug Administration (FDA) approved blood collection forms that must be pre-purchased from the MSPHL. The optimum collection time is between 24 and 48 hours-of-age. The instructions for collecting the samples are listed on the back of the collection form. All 5 circles on the filter paper need to be filled with blood from one side and then air dried for at least 3 hours in a horizontal position without allowing the blood to touch any surface during drying, including other parts of the card (see image).
See "Rules for Collection".
Store the dried blood samples at room temperature in the envelopes provided by the MSPHL and transport within 24 hours of collection.
Initial Screen (the red form) or Repeat Screen (the green form)
Test Request Form(s)
Included in kit
Normal: The final newborn screening reports are mailed to the submitter and physician of record.
Borderline Risk: Repeat the newborn screen. If, however, the infant is sick or displays signs of metabolic distress, the physician may wish to conduct diagnostic testing instead of, or in addition to the repeat screen. The final newborn screening reports are mailed to the submitter and physician of record.
High Risk: Diagnostic testing and consultation with a metabolic specialist is needed. Final results are phoned and faxed to physician/health care provider and appropriate follow up center. Follow up centers are contracted by the Department of Health and Senior Services (DHSS) for follow up tracking, testing, diagnosis, and counseling.
|Pompe||Acid alpha glucosidase (GAA)||>8.0 µmol/L/hr|
|Gaucher||Glucosylceramidase (GBA)||>7.0 µmol/L/hr|
|Fabry||Alpha galactosidase (GLA)||>8.0 µmol/L/hr|
|MPS-I||Alpha L iduronidase (IDUA)||>2.0 µmol/L/hr|
Lysosomal enzyme activities are not reliable in premature newborns with <34 weeks gestation or birthweight <2000 grams. A repeat newborn screen at 28 days of age is necessary.
False positive results may be caused by:
- Improper drying
- Samples placed in plastic prior to drying
- Delayed transit or exposure to heat and humidity
1 to 3 working days after receipt of specimen
$85 charge – for full panel of screening disorders