Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
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Test ID: LSD6W
Lysosomal Storage Disorders, Six-Enzyme Panel, Leukocytes
Useful For 
Suggests clinical disorders or settings where the test may be helpful
Diagnosis of the lysosomal storage disorders: Fabry (in male patients), Gaucher, Krabbe, mucopolysaccharidosis I (MPS I), Niemann-Pick types A and B, and Pompe (Glycogen storage disorder type II)
This test is not intended for carrier detection
Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request
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.
This test is an enzyme testing panel for individuals with positive newborn screen results or clinical signs and symptoms suspicious for Fabry disease, Gaucher disease, Krabbe disease, mucopolysaccharidosis I, Niemann-Pick A/B disease or Pompe disease. If an enzyme deficiency is detected by this screening test, additional biochemical or molecular testing is required to confirm a diagnosis.
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 ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| GAAWR | Acid Alpha-Glucosidase Reflex, WBC | No, (Bill Only) | No |
| GALCR | Galactocerebrosidase Reflex, WBC | No, (Bill Only) | No |
Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
If alpha-glucosidase is <5.00 nmol/hour/mg protein, then alpha-glucosidase will be added and performed at an additional charge.
If galactocerebrosidase is <1.88 nmol/hour/mg protein, then galactocerebrosidase will be added and performed at an additional charge.
The following are available in Special Instructions:
-Newborn Screen Follow up for Fabry Disease
-Newborn Screen Follow-up for Gaucher 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 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 Mucopolysaccharidoses Type I: Decreased Alpha-L-Iduronidase
-Newborn Screening Act Sheet Niemann-Pick A/B: Decreased Acid Sphingomyelinase
-Newborn Screening Act Sheet Pompe Disease: Decreased Acid Alpha-Glucosidase
Special Instructions Library of PDFs including pertinent information and forms related to the test
- Informed Consent for Genetic Testing
- Biochemical Genetics Patient Information
- 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 Mucopolysaccharidoses 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
- Newborn Screen Follow-up for Pompe Disease
- Newborn Screen Follow-up for Niemann Pick Type A and B
- Newborn Screen Follow-up for Mucopolysaccharidosis Type I
- Newborn Screen Follow-up for Gaucher Disease
- Newborn Screen Follow up for Fabry Disease
- Informed Consent for Genetic Testing (Spanish)
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.
Reporting Name Lists a shorter or abbreviated version of the Published Name for a test
Aliases Lists additional common names for a test, as an aid in searching
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
LSD Screen
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