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
Not provided.
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
Enzymes extracted
Protein
LOINC Codes
- 85267-3 - X-ALD NBS Pnl DBS
- 85268-1 - X-ALD NBS comment
- 18771-6 - Provider signing name
- 8339-4 - Birth weight Measured
- 57715-5 - Birth time
- 76516-4 - GA--@ birth
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 |