Test Catalog

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

Highlights

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
LPCBSLysoPC by LC MS/MS, BSYesNo
PDBSPompe Disease, 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, globotriaosylsphingosine, oxysterols, or Supplemental Newborn Screen (SNS) for the calculated ratio of creatine:creatinine) 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

-Newborn Screen Follow-up for Fabry Disease

-Newborn Screen Follow-up for Pompe Disease

-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm 

 

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

-Newborn Screening Act Sheet Pompe Disease: Decreased Acid-Alpha-Glucosidase

Special Instructions Library of PDFs including pertinent information and forms related to the 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 Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

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