LSD6 - Overview: Lysosomal Storage Disorders Newborn Screen, Blood Spot

Test Catalog

Test Name

Test ID: LSD6    
Lysosomal Storage Disorders Newborn Screen, Blood Spot

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

First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS-I), Niemann-Pick types A and B, and Pompe (Glycogen storage disorder type II)

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Testing performed in the context of newborn screening only. For diagnostic testing, or at a clinical biochemical geneticist's discretion, testing may be changed to PLSD / Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot.

 

When screening for X-linked adrenoleukodystrophy is also desired, in addition to lysosomal storage disorders, order LDALD / Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot.

Highlights

Lysosomal storage disorders are a diverse group of inherited diseases characterized by the intracellular accumulation of macromolecules leading to cell damage and organ dysfunction.

 

Due to the improved outcomes associated with presymptomatic intervention, some states have recently added select lysosomal storage disorders to their newborn screening programs.

 

If an enzyme deficiency is detected by this screening test, additional biochemical or molecular testing is required to confirm a diagnosis.

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

First-tier results will be reviewed and second-tier screening performed at clinical biochemical geneticist discretion at no additional charge. This minimizes the false-positive rate and maximizes the positive predictive value of screening for these lysosomal storage disorders.

 

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 Pompe Disease

 

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

-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 Pompe Disease: Decreased Acid Alpha-Glucosidase

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.

Conditional

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

Lysosomal Newborn Screen, 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
Alpha-L-iduronidase
Anderson-Fabry Disease
Beta-Glucosidase
Ceramide Trihexosidase
Cerebrosidase B-Galactosidase
Cerebrosidase Beta-Galactosidase
Fabry Disease
GAA
Galactocerebrosidase
Galactosylceramidase
GALC
Gaucher Disease
GBA
GLA
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
MPS IH (Hurler syndrome)
MPS IH/S (Hurler-Scheie syndrome)
MPS IS (Sheie syndrome)
Mucopolysaccharidosis type I
Newborn screening
Niemann-Pick Disease (NPD)
NPD (Niemann-Pick Disease)
Pompe Disease
Sphingomyelinase Deficiency