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HelpTest ID LSD6W Lysosomal Storage Disorders, Six-Enzyme Panel, Leukocytes
Ordering Guidance
Carrier detection using enzyme levels is unreliable for female patients with Fabry disease as results may be within the normal values. Order FABRZ / Fabry Disease, Full Gene Analysis, Varies for testing carrier status.
Shipping Instructions
For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.
Specimen Required
Container/Tube:
Preferred: Yellow top (ACD solution B)
Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)
Specimen Volume: 6 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602)
3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Useful For
Diagnosis of the lysosomal storage disorders: Fabry (in male patients), Gaucher, Krabbe, mucopolysaccharidosis I (MPS I), acid sphingomyelinase deficiency (Niemann-Pick types A and B), and Pompe (glycogen storage disorder type II)
This test is not intended for carrier detection.
Special Instructions
- 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 Screen Follow-up for Pompe Disease
- 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)
- Newborn Screen Follow-up for Acid Sphingomyelinase Deficiency
Method Name
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
Reporting Name
Lysosomal (Six) Panel, WBCSpecimen Type
Whole Blood ACDSpecimen Minimum Volume
2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood ACD | Refrigerated (preferred) | 6 days |
| Ambient | 6 days |
Reference Values
Beta-Glucosidase: ≥3.53 nmol/hour/mg protein
Acid Sphingomyelinase: ≥0.32 nmol/hour/mg protein
Acid Alpha-Glucosidase: ≥5.00 nmol/hour/mg protein
Galactocerebrosidase: ≥1.88 nmol/hour/mg protein
Alpha-Galactosidase: ≥10.32 nmol/hour/mg protein
Alpha-L-Iduronidase: ≥2.06 nmol/hour/mg protein
Acid Alpha-Glucosidase (Reflex): ≥1.50 nmol/hour/mg protein
Galactocerebrosidase (Reflex): ≥0.300 nmol/hour/mg protein
An interpretative report will be provided.
Day(s) Performed
Preanalytical processing: Monday through Saturday.
Testing performed: Monday, Wednesday
Report Available
5 to 9 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| LSD6W | Lysosomal (Six) Panel, WBC | 94489-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 606172 | Beta-Glucosidase | 32540-7 |
| 606173 | Acid Sphingomyelinase | 24101-8 |
| 606178 | Acid Alpha-Glucosidase | 24051-5 |
| 606179 | Acid Alpha-Glucosidase (Reflex) | 94488-4 |
| 606174 | Galactocerebrosidase | 24084-6 |
| 606175 | Galactocerebrosidase (Reflex) | 94487-6 |
| 606176 | Alpha-L-Iduronidase | 24057-2 |
| 606177 | Alpha-Galactosidase | 24049-9 |
| 606180 | Interpretation | 59462-2 |
| 606181 | Reviewed By | 18771-6 |
CPT Code Information
82657
82963
83789 (if appropriate for government payers)
82542 (if appropriate)
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| GAAWR | Acid Alpha-Glucosidase Reflex, WBC | Yes, (Order GAAW) | No |
| GALCR | Galactocerebrosidase Reflex, WBC | Yes, (Order GALCW) | No |
Testing Algorithm
If acid alpha-glucosidase is less than 5.00 nmol/hour/mg protein, then acid alpha-glucosidase will be added and performed at an additional charge.
If galactocerebrosidase is less than 1.88 nmol/hour/mg protein, then galactocerebrosidase will be added and performed at an additional charge.
Additional information is available:
-Newborn Screen Follow-up for Acid Sphingomyelinase Deficiency
-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 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 Mucopolysaccharidoses Type I: Decreased Alpha-L-Iduronidase
-Newborn Screening Act Sheet Niemann-Pick A/B: Decreased Acid Sphingomyelinase