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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.
Genetics Test Information
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 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, acid sphingomyelinase deficiency (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
| 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.
If the patient has abnormal newborn screening results, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)
For more testing information see:
-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
Special Instructions
- Informed Consent for Genetic Testing
- Biochemical Genetics Patient Information
- 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 | Special Container |
|---|---|---|---|
| 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.CPT Code Information
82657
82963
83789 (if appropriate for government payers)
82542 (if appropriate)
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 |