Lysosomal and Peroxisomal Disorders Screen, Blood Spot
Use
The test is used for the evaluation of patients with a clinical presentation suggestive of lysosomal disorders such as Gaucher, Krabbe, Fabry, or Pompe disease, and peroxisomal disorders including X-linked adrenoleukodystrophy and Zellweger spectrum disorders. It assists in screening for these disorders but requires additional biochemical or molecular testing for confirmation.
Special Instructions
Not provided.
Limitations
While this test is a useful screening tool for lysosomal and peroxisomal disorders, it is not definitive and cannot conclusively establish a diagnosis. A positive result indicates the need for further biochemical or molecular assays for confirmation. Carrier status cannot be reliably detected, and iduronate-2-sulfatase can also be deficient in individuals with multiple sulfatase deficiency.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 105458-4 - Lyso & perox sto disorer pnl DBS
- 55917-9 - Glucosylceramidase DBS-cCnc
- 62316-5 - Acid sphingomyelinase DBS-cCnc
- 55827-0 - Acid A-Glucosidase DBS-cCnc
- 62310-8 - GALC DBS-cCnc
- 55908-8 - A-Galactosidase A DBS-cCnc
- 55909-6 - A-L-Iduronidase DBS-cCnc
- 90920-0 - LysoPC(20:0) DBS-mCnc
- 90921-8 - LysoPC(22:0) DBS-mCnc
- 90922-6 - LysoPC(24:0) DBS-mCnc
- 90923-4 - LysoPC(26:0) DBS-mCnc
- 62301-7 - LSD DBS-Imp
- 18771-6 - Provider signing name
- 79462-8 - Iduronate2Sulfatas DBS-cCnc
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
Collection Instructions
Use a Blood Spot Collection Card. Fill at least 2 circles on the filter paper card and let the blood dry at ambient temperature for at least 3 hours.
Storage Instructions
Do not expose specimen to heat or direct sunlight. Keep specimen dry.
Causes for Rejection
Blood spot specimen that shows serum rings or has multiple layers, insufficient specimen, specimens exposed to elevated temperatures above ambient.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 28 days |
| Refrigerated | 90 days |
| Frozen | 90 days |