Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
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
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.
Test ID | Reporting Name | Available Separately | Always Performed |
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GAAWR | Acid Alpha-Glucosidase Reflex, WBC | No, (Bill Only) | No |
GALCR | Galactocerebrosidase Reflex, WBC | No, (Bill Only) | No |
If acid alpha-glucosidase is <5.00 nmol/hour/mg protein, then acid 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
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)