β-Galactosidase Deficiency, Leukocytes

TEST: 402370
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CPT: 82657
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Synonyms

  • Galactosialidosis, MPS IVb
  • Morquio B Disease

Special Instructions

Specimens must arrive in the lab within four days of collection.

Expected Turnaround Time

4 - 14 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Documents

Specimen Requirements

Specimen

Whole blood

Volume

10 mL

Minimum Volume

5 mL

Container

Yellow-top (ACD) tube

Collection

Refrigerate after collection. Transport to the testing lab using cool pack or LabCorp transport kit. Do not allow the sample to freeze. Sample must arrive in the laboratory within four days of collection.

Storage Instructions

Refrigerate.

Stability Requirements

Temperature

Period

Refrigerated

4 days

Causes for Rejection

Quantity not sufficient for analysis; specimen frozen; specimen not received within four days of collection; incorrect specimen collection tube; gross hemolysis; unable to isolate white blood cells

Test Details

Use

Diagnose patients with β-galactosidase deficiency, Morquio disease type B (MPS IVb), and combined β-galactosidase/neuraminidase deficiency (galactosialidosis)

Limitations

This test does not rule out a diagnosis of Morquio disease type A (MPS IVa). It is intended to determine affected status; carrier status will not be assigned.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Methodology

Determination of enzyme activity with 4-methylumbelliferyl-β-D-galactopyranoside

Reference Interval

47.2−140.0 nmol/hour/mg protein

References

Shapira E, Blitzer MG, Miller JB, et al. Biochemical Genetics: A Laboratory Manual. New York, NY: Oxford University Press;1989.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
402370 Beta-Galactosidase Deficiency 24061-4 402371 Beta-Galactosidase activity nmol/hr/mg prt 24061-4
402370 Beta-Galactosidase Deficiency 24061-4 402372 Interpretation N/A
402370 Beta-Galactosidase Deficiency 24061-4 402400 Director Review N/A
402370 Beta-Galactosidase Deficiency 24061-4 402373 Methodology N/A
402370 Beta-Galactosidase Deficiency 24061-4 402308 Disclaimer: N/A

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