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 test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

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

Testing Algorithm Delineates situation(s) 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.


The following algorithms are available in Special Instructions:

-Newborn Screen Follow-up for Gaucher Disease

-Newborn Screen Follow-up for Infantile Krabbe Disease

-Newborn Screen Follow-up for Mucopolysaccharidosis Type I

-Newborn Screen Follow-up for Niemann Pick Type A and B

-Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy


For more information, see the following Newborn Screening ACT Sheets in Special Instructions:

-Newborn Screening Act Sheet Fabry Disease: Decreased Alpha-Galactosidase A

-Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase

-Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase

-Newborn Screening Act Sheet Mucopolysaccharidosis Type I: Decreased Alpha-L-Iduronidase

-Newborn Screening Act Sheet Niemann-Pick A/B Disease: Decreased Acid Sphingomyelinase

-Newborn Screening Act Sheet X-linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular 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