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Test ID AGAW Alpha-Galactosidase, Leukocytes


Ordering Guidance


If testing is needed for assessment of meat or meat-derived product allergy, order either ALGAL / Galactose-Alpha-1,3-Galactose (Alpha-Gal), IgE, Serum or APGAL / Galactose-Alpha-1,3-Galactose (Alpha-Gal) Mammalian Meat Allergy Profile, Serum.

 

Carrier detection using enzyme levels is unreliable for female patients 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 Fabry disease in male patients

 

Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease

 

This test is not useful for patients undergoing a work-up for a meat or meat-derived product allergy.

Genetics Test Information

Fabry disease is caused by deficient activity of the enzyme alpha-galactosidase A and results in damage to multiple organs including the kidney, heart, and brain.

 

Treatment with enzyme replacement therapy is available for individuals with Fabry disease.

Testing Algorithm

Additional information is available:

-Fabry Disease: Newborn Screen-Positive Follow-up

-Fabry Disease Diagnostic Testing Algorithm

 

If the patient has abnormal newborn screening results for Fabry disease. Refer to the appropriate ACMG Newborn Screening ACT Sheet.(1)

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry

Reporting Name

Alpha-Galactosidase, Leukocytes

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

Reference Values

≥10.32 nmol/hour/mg protein

An interpretative report will be provided.

Note: Results from this assay do not reflect carrier status because of individual variation of alpha-galactosidase enzyme levels.

Day(s) Performed

Preanalytical processing: Monday through Saturday

Assay performed: Monday, Wednesday

Report Available

5 to 7 days

Performing 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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AGAW Alpha-Galactosidase, Leukocytes 24049-9

 

Result ID Test Result Name Result LOINC Value
606261 Alpha-Galactosidase, Leukocytes 24049-9
606262 Interpretation 59462-2
606263 Reviewed By 18771-6

NY State Approved

Yes