Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot
Use
This test serves as a first-tier newborn screen for multiple lysosomal disorders including Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), acid sphingomyelinase deficiency, and Pompe disease, as well as the peroxisomal disorder X-linked adrenoleukodystrophy. It may also detect Zellweger spectrum disorders. The primary aim is presymptomatic detection to facilitate intervention, as it can influence outcomes positively. This screen is supplemental and not a replacement for state-mandated newborn screening programs.
Special Instructions
The test is not intended to replace state-mandated newborn screening and is not appropriate for symptomatic metabolic screening. Newborns should be older than 24 hours and younger than 1 week at the time of sample collection. To confirm any enzyme deficiency detected, follow-up biochemical or molecular testing is required. It is important to ensure proper collection, drying, and transport of the blood spots to avoid specimen rejection.
Limitations
Carrier status (heterozygosity) cannot be reliably detected; false negatives may occur, particularly in individuals with milder or late-onset forms of disease. A positive screen suggests a diagnosis but necessitates additional confirmation through biochemical or molecular assays. Newborns with atypical or late-onset presentations may not display abnormal screening results in the newborn phase.
New York Approved
Methodology
Mass Spectrometry (Flow Injection Analysis Tandem Mass Spectrometry (FIA-MS/MS))
Biomarkers
LOINC Codes
- 85267-3
- 85268-1
- 18771-6
- 8339-4
- 57715-5
- 76516-4
Result Turnaround Time
2 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 Blood spots
Minimum Volume
1 Blood spot
Container
Blood Spot Collection Card or filter paper
Collection Instructions
Completely fill at least 2 circles on the filter paper card. Let the blood dry horizontally for at least 3 hours. Do not expose to heat or sunlight. Do not stack while wet. Keep dry.
Storage Instructions
Refrigerated (preferred) for 90 days on filter paper; 28 days at ambient temperature; 90 days if frozen.
Causes for Rejection
Specimens with serum rings or multiple layers, insufficient specimen, or exposed to elevated temperatures.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 28 days |
| Refrigerated | 90 days |
| Frozen | 90 days |