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Test Code LSD6W Lysosomal Storage Disorders, Six-Enzyme Panel, Leukocytes

Reporting Name

Lysosomal (Six) Panel, WBC

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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.

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)


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.


Specimen Type

Whole Blood ACD

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD Refrigerated (preferred) 6 days
  Ambient  6 days

Reject Due To

Gross hemolysis Reject
 

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.

Day(s) Performed

Preanalytical processing: Monday through Saturday.

Testing performed: Monday, Wednesday

Report Available

5 to 9 days

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

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.

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