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Test ID BGAW Beta-Galactosidase, Blood

Useful For

Diagnosis of GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis in whole blood specimens

 

This test is not useful for carrier detection.

Genetics Test Information

The beta-galactosidase enzyme is deficient in the following conditions: GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis.

Method Name

Fluorometric Enzyme Assay

Reporting Name

Beta-Galactosidase, B

Specimen Type

Whole blood


Additional Testing Requirements


Careful review of clinical findings will help distinguish between GM1 gangliosidosis and Morquio syndrome type B. A diagnosis of galactosialidosis must be additionally be ruled out (OLIGU / Oligosaccharide Screen, Random, Urine or LSDGP / Lysosomal Storage Disease Gene Panel, Varies).



Necessary Information


Provide a reason for testing with each specimen.



Specimen Required


Container/Tube: 

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 2 mL


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred) 7 days
  Refrigerated  7 days

Reference Values

≥5.0 nmol/hour/mL

An interpretive report will be provided.

Day(s) Performed

Preanalytical processing: Monday through Saturday

Assay performed: Tuesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BGAW Beta-Galactosidase, B 16454-1

 

Result ID Test Result Name Result LOINC Value
60987 Beta-Galactosidase, B 16454-1
34428 Interpretation 69047-9
34427 Reason for Referral 42349-1
34432 Reviewed By 18771-6

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

Report Available

8 to 15 days

NY State Approved

Yes

Disease States

  • Galactosialidosis

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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) in Special Instructions.

3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Testing Algorithm

See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 in Special Instructions.