PLSD - Overview: Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot

Test Catalog

Test Name

Test ID: PLSD    
Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot

Useful For Suggests clinical disorders or settings where the test may be helpful

Evaluation of patients with a clinical presentation suggestive of a lysosomal storage disorder, specifically Gaucher, Niemann-Pick type A or type B, Pompe, Krabbe, Fabry disease, or mucopolysaccharidosis I; or a peroxisomal disorder, either X-linked adrenoleukodystrophy or Zellweger syndrome spectrum


This is a screening test performed from a blood spot for a select number of lysosomal and peroxisomal disorders, including Gaucher disease, Fabry disease, Pompe disease, Krabbe disease, Niemann-Pick diseases A and B, mucopolysaccharidosis type I, Zellweger syndrome spectrum, and X-linked adrenoleukodystrophy.


Additional biochemical or molecular testing is required to confirm a diagnosis if enzyme deficiency is detected by this screening test.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests

Test IDReporting NameAvailable SeparatelyAlways Performed
MPSBSMucopolysaccharidosis, BSYesNo
PSYPsychosine, BSYesNo
GPSYGlucopsychosine, BSYesNo
OXYBSOxysterols, BSYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Results will be reviewed and second tier testing (lysophosphatidylcholines, mucopolysaccharidosis, psychosine, glucopsychosine, or oxysterols) may be performed at a clinical biochemical geneticist's discretion at an additional charge.


See Newborn Screen Follow-up for Niemann Pick Type A and B in Special Instructions.

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

Method Name A short description of the method used to perform the test

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Lysosomal/Peroxisomal D/O Scrn, BS

Aliases Lists additional common names for a test, as an aid in searching

Acid Alpha-Glucosidase
Acid Beta-Glucosidase
Acid Maltase Deficiency
Alpha Galactosidase A
Anderson-Fabry Disease
Ceramide Trihexosidase
Cerebrosidase B-Galactosidase
Cerebrosidase Beta-Galactosidase
Fabry Disease
Gaucher Disease
Globoid Cell Leukodystrophy
Glucocerebrosidase Deficiency
Glycogen Storage Disease Type II (GSD II)
GSD II (Glycogen Storage Disease Type II)
Krabbe Disease
LSD Screen
Lysosomal Storage Disorder Screen
Niemann-Pick Disease (NPD)
NPD (Niemann-Pick Disease)
Pompe Disease
Sphingomyelinase Deficiency
Mucopolysaccharidosis type I
MPS IH (Hurler syndrome)
MPS IS (Sheie syndrome)
MPS IH/S (Hurler-Scheie syndrome)
Adrenoleukodystrophy (ALD)
X-linked adrenoleukodystrophy (XALD)
Zellweger Syndrome
Zellweger Spectrum Syndrome (ZSS)
Peroxisomal biogenesis disorders