Test Details
Methodology
Determination of enzyme activity with 4-methylumbelliferyl-β-D-galactopyranoside
Result 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.
Use
Diagnose patients with β-galactosidase deficiency, Morquio disease type B (MPS IVb), and combined β-galactosidase/neuraminidase deficiency (galactosialidosis)
Special Instructions
Specimens must arrive in the lab within four days of collection.
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).
Specimen Requirements
Specimen
Whole blood
Volume
10 mL
Minimum Volume
5 mL
Container
Yellow-top (ACD) tube
Collection Instructions
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.
Stability Requirements
Temperature | Period |
|---|---|
Refrigerated | 4 days |
Reference Range
47.2−140.0 nmol/hour/mg protein
Storage Instructions
Refrigerate.
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
References
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 | |
| Order Code | 402370 | |||||
| Order Code Name | Beta-Galactosidase Deficiency | |||||
| Order Loinc | 24061-4 | |||||
| Result Code | 402371 | |||||
| Result Code Name | Beta-Galactosidase activity | |||||
| UofM | nmol/hr/mg prt | |||||
| Result LOINC | 24061-4 | |||||
| Order Code | 402370 | |||||
| Order Code Name | Beta-Galactosidase Deficiency | |||||
| Order Loinc | 24061-4 | |||||
| Result Code | 402372 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 402370 | |||||
| Order Code Name | Beta-Galactosidase Deficiency | |||||
| Order Loinc | 24061-4 | |||||
| Result Code | 402400 | |||||
| Result Code Name | Director Review | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 402370 | |||||
| Order Code Name | Beta-Galactosidase Deficiency | |||||
| Order Loinc | 24061-4 | |||||
| Result Code | 402373 | |||||
| Result Code Name | Methodology | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 402370 | |||||
| Order Code Name | Beta-Galactosidase Deficiency | |||||
| Order Loinc | 24061-4 | |||||
| Result Code | 402308 | |||||
| Result Code Name | Disclaimer: | |||||
| UofM | ||||||
| Result LOINC | N/A |