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HelpTest Code 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.
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.
Interpretation
Values below the reference ranges are consistent with a diagnosis of lysosomal storage disorders.
When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing, and in vitro, confirmatory studies (enzyme assay, molecular analysis), name and phone number of key contacts who may provide these studies, and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.
Clinical Reference
1. Newborn Screening ACT Sheets. American College of Medical Genetics and Genomics; Accessed October 30, 2023. Available at www.acmg.net/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms.aspx?hkey=9d6bce5a-182e-42a6-84a5-b2d88240c508
2. Elliott S, Buroker N, Cournoyer JJ, et al: Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. Mol Genet Metab. 2016 Aug;118(4):304-309
3. Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S: Newborn screening for lysosomal storage disorders. Semin Perinatol. 2015 Apr;39(3):206-216
4. Valle D, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds.: Lysosomal disorders. In: The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). Part 16. McGraw-Hill; 2019. Accessed March 3, 2022. Available at https://ommbid.mhmedical.com/book.aspx?bookID=2709#2250694196
5. Liao HC, Spacil Z, Ghomashchi F, et al: Lymphocyte galactocerebrosidase activity by LC-MS/MS for post-newborn screening evaluation of Krabbe disease. Clin Chem. 2017 Aug;63(8):1363-1369
6. Lin N, Huang J, Violante S, et al: Liquid chromatography-tandem mass spectrometry assay of leukocyte acid alpha-glucosidase for post-newborn screening evaluation of Pompe disease. Clin Chem. 2017 Apr;63(4):842-851
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 |