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

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

Conditional

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 spectrum syndrome

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
LPCBSLysoPC by LC MS/MS (Reflex), BSNoNo

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

If C26 lysophosphatidylcholine is >0.30, then lysophosphatidylcholines will be performed at an additional charge.

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)

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
Beta-Glucosidase
Ceramide Trihexosidase
Cerebrosidase B-Galactosidase
Cerebrosidase Beta-Galactosidase
Fabry Disease
GAA
Galactocerebrosidase
Galactosylceramidase
GALC
Gaucher Disease
GBA
GLA
Globoid Cell Leukodystrophy
Glucocerebrosidase Deficiency
Glycogen Storage Disease Type II (GSD II)
GSD II (Glycogen Storage Disease Type II)
Krabbe Disease
LDSBS
LSD Screen
LSDBS
Lysosomal Storage Disorder Screen
Niemann-Pick Disease (NPD)
NPD (Niemann-Pick Disease)
Pompe Disease
Sphingomyelinase Deficiency
Mucopolysaccharidosis type I
Alpha-L-iduronidase
MPS IH (Hurler syndrome)
MPS IS (Sheie syndrome)
MPS IH/S (Hurler-Scheie syndrome)
Adrenoleukodystrophy (ALD)
X-linked adrenoleukodystrophy (XALD)
Adrenomyeloneuropathy
Zellweger Syndrome
Zellweger Spectrum Syndrome (ZSS)
Peroxisomal biogenesis disorders